Summary Literature (374)

Xenbase Articles :
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Subthreshold changes of voltage-dependent activation of the K(V)7.2 channel in neonatal epilepsy., Hunter J,Maljevic S,Shankar A,Siegel A,Weissman B,Holt P,Olson L,Lerche H,Escayg A, Neurobiol Dis. October 1, 2006; 24(1):1095-953X.

Introduction to nucleocytoplasmic transport: molecules and mechanisms., Peters R, Methods Mol Biol. January 1, 2006; 322:1940-6029.

The Wnt-dependent signaling pathways as target in oncology drug discovery., Janssens N,Janicot M,Perera T, Invest New Drugs. July 1, 2006; 24(4):0167-6997.

Dystroglycan is required for proper retinal layering., Lunardi A,Cremisi F,Dente L, Dev Biol. February 15, 2006; 290(2):1095-564X.

A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract., Arora A,Minogue PJ,Liu X,Reddy MA,Ainsworth JR,Bhattacharya SS,Webster AR,Hunt DM,Ebihara L,Moore AT,Beyer EC,Berthoud VM, J Med Genet. January 1, 2006; 43(1):1468-6244.

Dominant-negative effects of human P/Q-type Ca2+ channel mutations associated with episodic ataxia type 2., Jeng CJ,Chen YT,Chen YT,Chen YW,Chen YW,Tang CY, Am J Physiol Cell Physiol. April 1, 2006; 290(4):1522-1563.

A truncated Kv1.1 protein in the brain of the megencephaly mouse: expression and interaction., Persson AS,Klement G,Almgren M,Sahlholm K,Nilsson J,Petersson S,Arhem P,Schalling M,Lavebratt C, BMC Neurosci. November 23, 2005; 6:1471-2202.

Reduced U snRNP assembly causes motor axon degeneration in an animal model for spinal muscular atrophy., Winkler C,Eggert C,Gradl D,Meister G,Giegerich M,Wedlich D,Laggerbauer B,Fischer U, Genes Dev. October 1, 2005; 19(19):1549-5477.

Neural and eye-specific defects associated with loss of the imitation switch (ISWI) chromatin remodeler in Xenopus laevis., Dirscherl SS,Henry JJ,Krebs JE, Mech Dev. November 1, 2005; 122(11):1872-6356.

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies., Wiszniewski W,Zaremba CM,Yatsenko AN,Jamrich M,Wensel TG,Lewis RA,Lupski JR, Hum Mol Genet. October 1, 2005; 14(19):1460-2083.

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein., Wattenhofer M,Sahin-Calapoglu N,Andreasen D,Kalay E,Caylan R,Braillard B,Fowler-Jaeger N,Reymond A,Rossier BC,Karaguzel A,Antonarakis SE, Hum Genet. October 1, 2005; 117(6):1432-1203.

Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening., Peter C,Korngreen A,Witzemann V, Pflugers Arch. June 1, 2005; 450(3):1432-2013.

A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome., Proks P,Girard C,Haider S,Gloyn AL,Hattersley AT,Sansom MS,Ashcroft FM, EMBO Rep. May 1, 2005; 6(5):1469-3178.

A novel positive allosteric modulator of the alpha7 neuronal nicotinic acetylcholine receptor: in vitro and in vivo characterization., Hurst RS,Hajós M,Raggenbass M,Wall TM,Higdon NR,Lawson JA,Rutherford-Root KL,Berkenpas MB,Hoffmann WE,Piotrowski DW,Groppi VE,Allaman G,Ogier R,Bertrand S,Bertrand D,Arneric SP, J Neurosci. April 27, 2005; 25(17):1529-2401.

Severe neuropathy with leaky connexin32 hemichannels., Liang GS,de Miguel M,Gómez-Hernández JM,Glass JD,Scherer SS,Mintz M,Barrio LC,Fischbeck KH, Ann Neurol. May 1, 2005; 57(5):1531-8249.

Kinetic properties of nuclear transport conferred by the retinoblastoma (Rb) NLS., Hu W,Kemp BE,Jans DA, J Cell Biochem. July 1, 2005; 95(4):0730-2312.

Simple sequence in brain and nervous system specific proteins., Huntley MA,Mahmood S,Golding GB, Genome. April 1, 2005; 48(2):0831-2796.

Effect of galantamine on the human alpha7 neuronal nicotinic acetylcholine receptor, the Torpedo nicotinic acetylcholine receptor and spontaneous cholinergic synaptic activity., Texidó L,Ros E,Martín-Satué M,López S,Aleu J,Marsal J,Solsona C, Br J Pharmacol. July 1, 2005; 145(5):1476-5381.

Induction of ectopic olfactory structures and bone morphogenetic protein inhibition by Rossy, a group XII secreted phospholipase A2., Muñoz-Sanjuán I,Brivanlou AH, Mol Cell Biol. May 1, 2005; 25(9):1098-5549.

Anxiolytic effects of Maxipost (BMS-204352) and retigabine via activation of neuronal Kv7 channels., Korsgaard MP,Hartz BP,Brown WD,Ahring PK,Strøbaek D,Mirza NR, J Pharmacol Exp Ther. July 1, 2005; 314(1):1521-0103.

Functional polymorphisms in the human beta4 subunit of nicotinic acetylcholine receptors., Liang Y,Salas R,Marubio L,Bercovich D,De Biasi M,Beaudet AL,Dani JA, Neurogenetics. February 1, 2005; 6(1):1364-6745.

Transgenic animal models of tauopathies., Lee VM,Kenyon TK,Trojanowski JQ, Biochim Biophys Acta. January 3, 2005; 1739(2-3):0006-3002.

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects., Dinour D,Chang MH,Satoh J,Smith BL,Smith BL,Angle N,Knecht A,Serban I,Holtzman EJ,Romero MF, J Biol Chem. December 10, 2004; 279(50):1083-351X.

Familial hemiplegic migraine type 1 mutations K1336E, W1684R, and V1696I alter Cav2.1 Ca2+ channel gating: evidence for beta-subunit isoform-specific effects., Müllner C,Broos LA,van den Maagdenberg AM,Striessnig J, J Biol Chem. December 10, 2004; 279(50):1083-351X.

Regulation and function of small heat shock protein genes during amphibian development., Heikkila JJ, J Cell Biochem. November 1, 2004; 93(4):0730-2312.

Uncoupling of photoreceptor peripherin/rds fusogenic activity from biosynthesis, subunit assembly, and targeting: a potential mechanism for pathogenic effects., Ritter LM,Boesze-Battaglia K,Tam BM,Moritz OL,Khattree N,Chen SC,Goldberg AF, J Biol Chem. September 17, 2004; 279(38):1083-351X.

Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss., Meşe G,Londin E,Mui R,Brink PR,White TW, Hum Genet. August 1, 2004; 115(3):1432-1203.

A critical role of Pax6 in alcohol-induced fetal microcephaly., Peng Y,Yang PH,Ng SS,Wong OG,Liu J,He ML,Kung HF,Lin MC, Neurobiol Dis. July 1, 2004; 16(2):1095-953X.

Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives., Inoue T,Hatayama M,Tohmonda T,Itohara S,Aruga J,Mikoshiba K, Dev Biol. June 1, 2004; 270(1):1095-564X.

Modification of Kv2.1 K+ currents by the silent Kv10 subunits., Vega-Saenz de Miera EC, Brain Res Mol Brain Res. April 7, 2004; 123(1-2):0169-328X.

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM,Di WL,Kasperek EM,Kelsell DP,Nicholson BJ, FASEB J. May 1, 2004; 18(7):1530-6860.

Modulation of DMT1 activity by redox compounds., Marciani P,Trotti D,Hediger MA,Monticelli G, J Membr Biol. January 15, 2004; 197(2):1432-1424.

Microtransplantation of functional receptors and channels from the Alzheimer's brain to frog oocytes., Miledi R,Dueñas Z,Martinez-Torres A,Kawas CH,Eusebi F, Proc Natl Acad Sci U S A. February 10, 2004; 101(6):1091-6490.

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32., Abrams CK,Freidin M,Bukauskas F,Dobrenis K,Bargiello TA,Verselis VK,Bennett MV,Chen L,Sahenk Z, J Neurosci. November 19, 2003; 23(33):1529-2401.

Mutations linked to generalized epilepsy in humans reduce GABA(A) receptor current., Macdonald RL,Bianchi MT,Bianch MT,Feng H, Exp Neurol. November 1, 2003; 184 Suppl 1:0014-4886.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features., Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M, Proc Natl Acad Sci U S A. November 11, 2003; 100(23):1091-6490.

Single-channel SCAM identifies pore-lining residues in the first extracellular loop and first transmembrane domains of Cx46 hemichannels., Kronengold J,Trexler EB,Bukauskas FF,Bargiello TA,Verselis VK, J Gen Physiol. October 1, 2003; 122(4):1540-7748.

Zebrafish Cx35: cloning and characterization of a gap junction gene highly expressed in the retina., McLachlan E,White TW,Ugonabo C,Olson C,Nagy JI,Valdimarsson G, J Neurosci Res. September 15, 2003; 73(6):1097-4547.

Molecular motions of the outer ring of charge of the sodium channel: do they couple to slow inactivation?, Xiong W,Li RA,Tian Y,Tomaselli GF, J Gen Physiol. September 1, 2003; 122(3):1540-7748.

Opsin activation as a cause of congenital night blindness., Jin S,Cornwall MC,Oprian DD, Nat Neurosci. July 1, 2003; 6(7):1546-1726.

Functional characterization of a glutamate/aspartate transporter from the mosquito Aedes aegypti., Umesh A,Cohen BN,Ross LS,Gill SS, J Exp Biol. July 1, 2003; 206(Pt 13):1477-9145.

Down-regulation of GABA-transporter function by hippocampal translation products: its possible role in epilepsy., Fueta Y,Vasilets LA,Takeda K,Kawamura M,Schwarz W, Neuroscience. January 1, 2003; 118(2):1873-7544.

Amyloid beta(1-42) peptide alters the gating of human and mouse alpha-bungarotoxin-sensitive nicotinic receptors., Grassi F,Palma E,Tonini R,Amici M,Ballivet M,Eusebi F, J Physiol. February 15, 2003; 547(Pt 1):0022-3751.

Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1., Meadows LS,Malhotra J,Loukas A,Thyagarajan V,Kazen-Gillespie KA,Koopman MC,Kriegler S,Isom LL,Ragsdale DS, J Neurosci. December 15, 2002; 22(24):1529-2401.

Abnormal Tau phosphorylation of the Alzheimer-type also occurs during mitosis., Delobel P,Flament S,Hamdane M,Mailliot C,Sambo AV,Bégard S,Sergeant N,Delacourte A,Vilain JP,Buée L, J Neurochem. October 1, 2002; 83(2):1471-4159.

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro., Guipponi M,Vuagniaux G,Wattenhofer M,Shibuya K,Vazquez M,Dougherty L,Scamuffa N,Guida E,Okui M,Rossier C,Hancock M,Buchet K,Reymond A,Hummler E,Marzella PL,Kudoh J,Shimizu N,Scott HS,Antonarakis SE,Rossier BC, Hum Mol Genet. November 1, 2002; 11(23):1460-2083.

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum., Howard HC,Mount DB,Rochefort D,Byun N,Dupré N,Lu J,Fan X,Song L,Rivière JB,Prévost C,Horst J,Simonati A,Lemcke B,Welch R,England R,Zhan FQ,Mercado A,Siesser WB,George AL,McDonald MP,Bouchard JP,Mathieu J,Delpire E,Rouleau GA, Nat Genet. November 1, 2002; 32(3):1546-1718.

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy., Robitaille J,MacDonald ML,Kaykas A,Sheldahl LC,Zeisler J,Dubé MP,Zhang LH,Singaraja RR,Guernsey DL,Zheng B,Siebert LF,Hoskin-Mott A,Trese MT,Pimstone SN,Shastry BS,Moon RT,Hayden MR,Goldberg YP,Samuels ME, Nat Genet. October 1, 2002; 32(2):1546-1718.

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia., Rea R,Tijssen MA,Herd C,Frants RR,Kullmann DM, Eur J Neurosci. July 1, 2002; 16(2):1460-9568.

Identification and molecular cloning of Xenopus laevis SP22, a protein associated with fertilization in mammals., Monetti C,Vigetti D,Gornati R,Prati M,Klinefelter GR,Bernardini G, Comp Biochem Physiol B Biochem Mol Biol. August 1, 2002; 132(4):1096-4959.

Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans., Bianchi MT,Song L,Zhang H,Macdonald RL, J Neurosci. July 1, 2002; 22(13):1529-2401.

Modelling Alzheimer-specific abnormal Tau phosphorylation independently of GSK3beta and PKA kinase activities., Delobel P,Flament S,Hamdane M,Delacourte A,Vilain JP,Buée L, FEBS Lett. April 10, 2002; 516(1-3):1873-3468.

Expression of the gene encoding the beta-amyloid precursor protein APP in Xenopus laevis., van den Hurk WH,Bloemen M,Martens GJ, Brain Res Mol Brain Res. December 16, 2001; 97(1):0169-328X.

Investigating the mechanisms of retinal degenerations with antisense oligonucleotides., Jablonski MM, Doc Ophthalmol. May 1, 2001; 102(3):0012-4486.

Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions., Yoshida M,Colma DR, Neurochem Res. June 1, 2001; 26(6):1573-6903.

[Cellular mechanism of seizure discharge and its normalization by a herbal mixture prescription "saikokeishito-ka-shakuyaku" (SK)]., Sugaya A, Yakugaku Zasshi. May 1, 2001; 121(5):1347-5231.

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease., Abrams CK,Freidin MM,Verselis VK,Bennett MV,Bargiello TA, Dev Biol. May 4, 2001; 900(1):0012-1606.

Functional properties of a new voltage-dependent calcium channel alpha(2)delta auxiliary subunit gene (CACNA2D2)., Gao B,Sekido Y,Maximov A,Saad M,Forgacs E,Latif F,Wei MH,Lerman M,Lee JH,Lee JH,Perez-Reyes E,Bezprozvanny I,Minna JD, J Biol Chem. April 21, 2000; 275(16):1083-351X.

Molecular mechanism underlying a Cx50-linked congenital cataract., Pal JD,Berthoud VM,Beyer EC,Mackay D,Shiels A,Ebihara L, Am J Physiol. June 1, 1999; 276(6):0002-9513.

SOD1 mutants linked to amyotrophic lateral sclerosis selectively inactivate a glial glutamate transporter., Trotti D,Rolfs A,Danbolt NC,Brown RH,Hediger MA, Nat Neurosci. May 1, 1999; 2(5):1546-1726.

KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness., Kubisch C,Schroeder BC,Friedrich T,Lütjohann B,El-Amraoui A,Marlin S,Petit C,Jentsch TJ, Cell. February 5, 1999; 96(3):1097-4172.

Analysis of 3-(4-hydroxy, 2-Methoxybenzylidene)anabaseine selectivity and activity at human and rat alpha-7 nicotinic receptors., Meyer EM,Kuryatov A,Gerzanich V,Lindstrom J,Papke RL, J Pharmacol Exp Ther. December 1, 1998; 287(3):1521-0103.

The capsaicin receptor: a heat-activated ion channel in the pain pathway., Caterina MJ,Schumacher MA,Tominaga M,Rosen TA,Levine JD,Julius D, Nature. October 23, 1997; 389(6653):0143-5221.

Notch in vertebrates., Robey E, Curr Opin Genet Dev. August 1, 1997; 7(4):0959-437X.

Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction., Gomez CM,Maselli R,Gundeck JE,Chao M,Day JW,Tamamizu S,Lasalde JA,McNamee M,Wollmann RL, J Neurosci. June 1, 1997; 17(11):1529-2401.

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)., Meindl A,Dry K,Herrmann K,Manson F,Ciccodicola A,Edgar A,Carvalho MR,Achatz H,Hellebrand H,Lennon A,Migliaccio C,Porter K,Zrenner E,Bird A,Jay M,Lorenz B,Wittwer B,D'Urso M,Meitinger T,Wright A, Nat Genet. May 1, 1996; 13(1):1546-1718.

A transgenic mouse model of the slow-channel syndrome., Gomez CM,Bhattacharyya BB,Charnet P,Day JW,Labarca C,Wollmann RL,Lambert EH, Muscle Nerve. January 1, 1996; 19(1):1097-4598.

Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements., Wang YH,Griffith J, Genomics. January 20, 1995; 25(2):1089-8646.

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein., Shoulders CC,Brett DJ,Bayliss JD,Narcisi TM,Jarmuz A,Grantham TT,Leoni PR,Bhattacharya S,Pease RJ,Cullen PM, Hum Mol Genet. December 1, 1993; 2(12):1460-2083.

Ocular malformations of Xenopus laevis exposed to nickel during embryogenesis., Hauptman O,Albert DM,Plowman MC,Hopfer SM,Sunderman FW, Ann Clin Lab Sci. January 1, 1993; 23(6):0091-7370.

Molecular cloning and chromosomal localization of the key subunit of the human N-methyl-D-aspartate receptor., Karp SJ,Masu M,Eki T,Ozawa K,Nakanishi S, J Biol Chem. February 15, 1993; 268(5):1083-351X.

Isoform-selective deficit of glycine receptors in the mouse mutant spastic., Becker CM,Schmieden V,Tarroni P,Strasser U,Betz H, Neuron. February 1, 1992; 8(2):0896-6273.

Infection of a poikilothermic cell line (XL-2) with eastern equine encephalitis and western equine encephalitis viruses., Morier L,Cantelar N,Soler M, J Med Virol. March 1, 1987; 21(3):0146-6615.

Multiple sclerosis cerebrospinal fluid produces myelin lesions in tadpole optic nerves., Tabira T,Webster HD,Wray SH, N Engl J Med. September 16, 1976; 295(12):1533-4406.

Xenopus fibrillin regulates directed convergence and extension., Skoglund P,Keller R, Dev Biol. January 15, 2007; 301(2):1095-564X.

Eye and neural defects associated with loss of GDF6., Hanel ML,Hensey C, BMC Dev Biol. June 6, 2006; 6:1471-213X.

Na,K-ATPase mutations in familial hemiplegic migraine lead to functional inactivation., Koenderink JB,Zifarelli G,Qiu LY,Schwarz W,De Pont JJ,Bamberg E,Friedrich T, Biochim Biophys Acta. May 15, 2005; 1669(1):0006-3002.

Role of peripherin/rds in vertebrate photoreceptor architecture and inherited retinal degenerations., Goldberg AF, Int Rev Cytol. January 1, 2006; 253:0074-7696.

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia., Chen H,von Hehn C,Kaczmarek LK,Ment LR,Pober BR,Hisama FM, Neurogenetics. April 1, 2007; 8(2):1364-6745.

NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter., Goytain A,Hines RM,El-Husseini A,Quamme GA, J Biol Chem. March 16, 2007; 282(11):1083-351X.

Paracrine and autocrine mechanisms of apelin signaling govern embryonic and tumor angiogenesis., Kälin RE,Kretz MP,Meyer AM,Kispert A,Heppner FL,Brändli AW, Dev Biol. May 15, 2007; 305(2):1095-564X.

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination., Hilton EN,Manson FD,Urquhart JE,Johnston JJ,Slavotinek AM,Hedera P,Stattin EL,Nordgren A,Biesecker LG,Black GC, Hum Mol Genet. July 15, 2007; 16(14):1460-2083.

Chimeric molecules to target proteins for ubiquitination and degradation., Sakamoto KM, Methods Enzymol. January 1, 2005; 399:1557-7988.

Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin., Tam BM,Moritz OL, J Neurosci. August 22, 2007; 27(34):1529-2401.

Rat's trick to escape Alzheimer's disease., Shen L,Ji HF, J Biomol Struct Dyn. December 1, 2007; 25(3):1538-0254.

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts., Arora A,Minogue PJ,Liu X,Addison PK,Russel-Eggitt I,Webster AR,Hunt DM,Ebihara L,Beyer EC,Berthoud VM,Moore AT, J Med Genet. March 1, 2008; 45(3):1468-6244.

Neutralization of a negative charge in the S1-S2 region of the KV7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy., Wuttke TV,Penzien J,Fauler M,Seebohm G,Lehmann-Horn F,Lerche H,Jurkat-Rott K, J Physiol. January 15, 2008; 586(2):0022-3751.

Xenopus laevis P23H rhodopsin transgene causes rod photoreceptor degeneration that is more severe in the ventral retina and is modulated by light., Zhang R,Oglesby E,Marsh-Armstrong N, Exp Eye Res. April 1, 2008; 86(4):0014-4835.

Genetic and physical interaction between the NPHP5 and NPHP6 gene products., Schäfer T,Pütz M,Lienkamp S,Ganner A,Bergbreiter A,Ramachandran H,Gieloff V,Gerner M,Mattonet C,Czarnecki PG,Sayer JA,Otto EA,Hildebrandt F,Kramer-Zucker A,Walz G, Hum Mol Genet. December 1, 2008; 17(23):1460-2083.

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa., den Hollander AI,McGee TL,Ziviello C,Banfi S,Dryja TP,Gonzalez-Fernandez F,Ghosh D,Berson EL, Invest Ophthalmol Vis Sci. April 1, 2009; 50(4):1552-5783.

Novel, potent, and selective GABAC antagonists inhibit myopia development and facilitate learning and memory., Chebib M,Hinton T,Schmid KL,Brinkworth D,Qian H,Matos S,Kim HL,Abdel-Halim H,Kumar RJ,Johnston GA,Hanrahan JR, J Pharmacol Exp Ther. February 1, 2009; 328(2):1521-0103.

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations., Bockenhauer D,Feather S,Stanescu HC,Bandulik S,Zdebik AA,Reichold M,Tobin J,Lieberer E,Sterner C,Landoure G,Arora R,Sirimanna T,Thompson D,Cross JH,van't Hoff W,Al Masri O,Tullus K,Yeung S,Anikster Y,Klootwijk E,Hubank M,Dillon MJ,Heitzmann D,Arcos-Burgos M,Knepper MA,Dobbie A,Gahl WA,Warth R,Sheridan E,Kleta R, N Engl J Med. May 7, 2009; 360(19):1533-4406.

Reduced levels of survival motor neuron protein leads to aberrant motoneuron growth in a Xenopus model of muscular atrophy., Ymlahi-Ouazzani Q,J Bronchain O,Paillard E,Ballagny C,Chesneau A,Jadaud A,Mazabraud A,Pollet N, Neurogenetics. February 1, 2010; 11(1):1364-6745.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome., Yang T,Gurrola JG,Wu H,Chiu SM,Wangemann P,Snyder PM,Smith RJ, Am J Hum Genet. May 1, 2009; 84(5):1537-6605.

Vestibular asymmetry as the cause of idiopathic scoliosis: a possible answer from Xenopus., Lambert FM,Malinvaud D,Glaunès J,Bergot C,Straka H,Vidal PP, J Neurosci. October 7, 2009; 29(40):1529-2401.

Lessons from the lily pad: Using Xenopus to understand heart disease., Bartlett HL,Weeks DL, Drug Discov Today Dis Models. January 1, 2008; 5(3):1740-6757.

A functional null mutation of SCN1B in a patient with Dravet syndrome., Patino GA,Claes LR,Lopez-Santiago LF,Slat EA,Dondeti RS,Chen C,O'Malley HA,Gray CB,Miyazaki H,Nukina N,Oyama F,De Jonghe P,Isom LL, J Neurosci. August 26, 2009; 29(34):1529-2401.

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival., Rauschenberger K,Schöler K,Sass JO,Sauer S,Djuric Z,Rumig C,Wolf NI,Okun JG,Kölker S,Schwarz H,Fischer C,Grziwa B,Runz H,Nümann A,Shafqat N,Kavanagh KL,Hämmerling G,Wanders RJ,Shield JP,Wendel U,Stern D,Nawroth P,Hoffmann GF,Bartram CR,Arnold B,Bierhaus A,Oppermann U,Steinbeisser H,Zschocke J, EMBO Mol Med. February 1, 2010; 2(2):1757-4684.

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M,Xia XJ,Erdenetungalag R,Cengiz FB,White TW,Radnaabazar J,Dangaasuren B,Tastan H,Nance WE,Pandya A, Ann Hum Genet. March 1, 2010; 74(2):1469-1809.

Enhancement of GABA(A)-current run-down in the hippocampus occurs at the first spontaneous seizure in a model of temporal lobe epilepsy., Mazzuferi M,Palma E,Martinello K,Maiolino F,Roseti C,Fucile S,Fabene PF,Schio F,Pellitteri M,Sperk G,Miledi R,Eusebi F,Simonato M, Proc Natl Acad Sci U S A. February 16, 2010; 107(7):1091-6490.

An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca2+ sensing., Yang J,Krishnamoorthy G,Saxena A,Zhang G,Shi J,Yang H,Delaloye K,Sept D,Cui J, Neuron. June 24, 2010; 66(6):0896-6273.

Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase., Poulsen H,Khandelia H,Morth JP,Bublitz M,Mouritsen OG,Egebjerg J,Nissen P, Nature. September 2, 2010; 467(7311):0143-5221.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing., Naranjo S,Voesenek K,de la Calle-Mustienes E,Robert-Moreno A,Kokotas H,Grigoriadou M,Economides J,Van Camp G,Hilgert N,Moreno F,Alsina B,Petersen MB,Kremer H,Gómez-Skarmeta JL, Hum Genet. October 1, 2010; 128(4):1432-1203.

Potential role of caveolin-1-positive domains in the regulation of the acetylcholine receptor's activatable pool: implications in the pathogenesis of a novel congenital myasthenic syndrome., Báez-Pagán CA,Martínez-Ortiz Y,Otero-Cruz JD,Salgado-Villanueva IK,Velázquez G,Ortiz-Acevedo A,Quesada O,Silva WI,Lasalde-Dominicci JA, Channels (Austin). January 1, 2008; 2(3):1933-6969.

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Identification and characterization of a small-molecule inhibitor of Wnt signaling in glioblastoma cells., De Robertis A,Valensin S,Rossi M,Tunici P,Verani M,De Rosa A,Giordano C,Varrone M,Nencini A,Pratelli C,Benicchi T,Bakker A,Hill J,Sangthongpitag K,Pendharkar V,Liu B,Ng FM,Then SW,Jing Tai S,Cheong SM,He X,Caricasole A,Salerno M, Mol Cancer Ther. July 1, 2013; 12(7):1538-8514.

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The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death., Hollingsworth TJ,Gross AK, J Biol Chem. October 4, 2013; 288(40):1083-351X.

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The molecular mechanism of intestinal levodopa absorption and its possible implications for the treatment of Parkinson's disease., Camargo SM,Vuille-dit-Bille RN,Mariotta L,Ramadan T,Huggel K,Singer D,Götze O,Verrey F, J Pharmacol Exp Ther. October 1, 2014; 351(1):1521-0103.

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The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter., Abplanalp J,Laczko E,Philp NJ,Neidhardt J,Zuercher J,Braun P,Schorderet DF,Munier FL,Verrey F,Berger W,Camargo SM,Kloeckener-Gruissem B, Hum Mol Genet. August 15, 2013; 22(16):1460-2083.

Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia., Cheguru P,Majumder A,Artemyev NO, Mol Cell Neurosci. January 1, 2015; 64:1044-7431.

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Using Xenopus tissue cultures for the study of myasthenia gravis pathogenesis., Yeo HL,Lim JY,Fukami Y,Yuki N,Lee CW,Lee CW,Lee CW, Dev Biol. December 15, 2015; 408(2):1095-564X.

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Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients., Nakayama T,Fisher M,Fisher M,Nakajima K,Odeleye AO,Zimmerman KB,Zimmerman KB,Fish MB,Yaoita Y,Chojnowski JL,Lauderdale JD,Netland PA,Grainger RM, Dev Biol. December 15, 2015; 408(2):1095-564X.

Molecular mechanism of CHRDL1-mediated X-linked megalocornea in humans and in Xenopus model., Pfirrmann T,Emmerich D,Ruokonen P,Quandt D,Buchen R,Fischer-Zirnsak B,Hecht J,Krawitz P,Meyer P,Klopocki E,Stricker S,Lausch E,Seliger B,Hollemann T,Reinhard T,Auw-Haedrich C,Zabel B,Hoffmann K,Villavicencio-Lorini P, Hum Mol Genet. June 1, 2015; 24(11):1460-2083.

Nav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodents., Gilchrist J,Dutton S,Diaz-Bustamante M,McPherson A,Olivares N,Kalia J,Escayg A,Bosmans F, ACS Chem Biol. May 16, 2014; 9(5):1554-8937.

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Remyelination by Resident Oligodendrocyte Precursor Cells in a Xenopus laevis Inducible Model of Demyelination., Sekizar S,Mannioui A,Azoyan L,Colin C,Thomas JL,Du Pasquier D,Mallat M,Zalc B, Dev Neurosci. January 1, 2015; 37(3):1421-9859.

The evolutionarily conserved transcription factor PRDM12 controls sensory neuron development and pain perception., Nagy V,Cole T,Van Campenhout C,Khoung TM,Leung C,Vermeiren S,Novatchkova M,Wenzel D,Cikes D,Polyansky AA,Kozieradzki I,Meixner A,Bellefroid EJ,Neely GG,Penninger JM, Cell Cycle. January 1, 2015; 14(12):1551-4005.

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GABAA currents are decreased by IL-1β in epileptogenic tissue of patients with temporal lobe epilepsy: implications for ictogenesis., Roseti C,van Vliet EA,Cifelli P,Ruffolo G,Baayen JC,Di Castro MA,Bertollini C,Limatola C,Aronica E,Vezzani A,Palma E, Neurobiol Dis. October 1, 2015; 82:1095-953X.

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Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome., Zhu X,Dai FR,Wang J,Zhang Y,Zhang Y,Tan ZP,Zhang Y,Zhang Y, Gene. October 15, 2015; 571(1):1879-0038.

Huntingtin is required for ciliogenesis and neurogenesis during early Xenopus development., Haremaki T,Deglincerti A,Brivanlou AH, Dev Biol. December 15, 2015; 408(2):1095-564X.

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A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels., Petitjean D,Kalstrup T,Zhao J,Blunck R, J Neurosci. September 2, 2015; 35(35):1529-2401.

Analyzing and Modeling the Kinetics of Amyloid Beta Pores Associated with Alzheimer's Disease Pathology., Ullah G,Demuro A,Parker I,Pearson JE, PLoS One. September 4, 2015; 10(9):1932-6203.

Amyloid pore-channel hypothesis: effect of ethanol on aggregation state using frog oocytes for an Alzheimer's disease study., Parodi J,Ormeño D,Ochoa-de la Paz LD, BMB Rep. January 1, 2015; 48(1):1976-670X.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes., Lemke JR,Lal D,Reinthaler EM,Steiner I,Nothnagel M,Alber M,Geider K,Laube B,Schwake M,Finsterwalder K,Franke A,Schilhabel M,Jähn JA,Muhle H,Boor R,Van Paesschen W,Caraballo R,Fejerman N,Weckhuysen S,De Jonghe P,Larsen J,Møller RS,Hjalgrim H,Addis L,Tang S,Hughes E,Pal DK,Veri K,Vaher U,Talvik T,Dimova P,Guerrero López R,Serratosa JM,Linnankivi T,Lehesjoki AE,Ruf S,Wolff M,Buerki S,Wohlrab G,Kroell J,Datta AN,Fiedler B,Kurlemann G,Kluger G,Hahn A,Haberlandt DE,Kutzer C,Sperner J,Becker F,Weber YG,Feucht M,Steinböck H,Neophythou B,Ronen GM,Gruber-Sedlmayr U,Geldner J,Harvey RJ,Hoffmann P,Herms S,Altmüller J,Toliat MR,Thiele H,Nürnberg P,Wilhelm C,Stephani U,Helbig I,Lerche H,Zimprich F,Neubauer BA,Biskup S,von Spiczak S, Nat Genet. September 1, 2013; 45(9):1546-1718.

Xenopus laevis as a Model to Identify Translation Impairment., de Broucker A,Semaille P,Cailliau K,Martoriati A,Comptdaer T,Bodart JF,Destée A,Chartier-Harlin MC, J Vis Exp. September 27, 2015; (103):1940-087X.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.

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RNA-Seq and microarray analysis of the Xenopus inner ear transcriptome discloses orthologous OMIM(®) genes for hereditary disorders of hearing and balance., Ramírez-Gordillo D,Powers TR,van Velkinburgh JC,Trujillo-Provencio C,Schilkey F,Serrano EE, BMC Res Notes. November 18, 2015; 8:1756-0500.

Polyunsaturated fatty acids are potent openers of human M-channels expressed in Xenopus laevis oocytes., Liin SI,Karlsson U,Bentzen BH,Schmitt N,Elinder F, Acta Physiol (Oxf). September 1, 2016; 218(1):1748-1716.

Xenopus as a model organism for birth defects-Congenital heart disease and heterotaxy., Duncan AR,Khokha MK, Semin Cell Dev Biol. March 1, 2016; 51:1096-3634.

Acetylcholine receptors from human muscle as pharmacological targets for ALS therapy., Palma E,Reyes-Ruiz JM,Lopergolo D,Roseti C,Bertollini C,Ruffolo G,Cifelli P,Onesti E,Limatola C,Miledi R,Inghilleri M, Proc Natl Acad Sci U S A. March 15, 2016; 113(11):1091-6490.

The search for NKCC1-selective drugs for the treatment of epilepsy: Structure-function relationship of bumetanide and various bumetanide derivatives in inhibiting the human cation-chloride cotransporter NKCC1A., Lykke K,Töllner K,Feit PW,Erker T,MacAulay N,Löscher W, Epilepsy Behav. June 1, 2016; 59:1525-5069.

The cataract related mutation N188T in human connexin46 (hCx46) revealed a critical role for residue N188 in the docking process of gap junction channels., Schadzek P,Schlingmann B,Schaarschmidt F,Lindner J,Koval M,Heisterkamp A,Preller M,Ngezahayo A, Biochim Biophys Acta. January 1, 2016; 1858(1):0006-3002.

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy., Sicca F,Ambrosini E,Marchese M,Sforna L,Servettini I,Valvo G,Brignone MS,Lanciotti A,Moro F,Grottesi A,Catacuzzeno L,Baldini S,Hasan S,D'Adamo MC,Franciolini F,Molinari P,Santorelli FM,Pessia M, Sci Rep. September 28, 2016; 6:2045-2322.

The Enigma of the Dichotomic Pressure Response of GluN1-4a/b Splice Variants of NMDA Receptor: Experimental and Statistical Analyses., Bliznyuk A,Gradwohl G,Hollmann M,Grossman Y, Front Mol Neurosci. February 15, 2016; 9:1662-5099.

Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface Expression., Nichols WA,Henderson BJ,Marotta CB,Yu CY,Richards C,Dougherty DA,Lester HA,Cohen BN, PLoS One. January 1, 2016; 11(6):1932-6203.

CRISPR/Cas9 mediated knockout of rb1 and rbl1 leads to rapid and penetrant retinoblastoma development in Xenopus tropicalis., Naert T,Colpaert R,Van Nieuwenhuysen T,Dimitrakopoulou D,Leoen J,Haustraete J,Boel A,Steyaert W,Lepez T,Deforce D,Willaert A,Creytens D,Vleminckx K,Vleminckx K, Sci Rep. October 14, 2016; 6:2045-2322.

Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures., Maljevic S,Vejzovic S,Bernhard MK,Bertsche A,Weise S,Döcker M,Lerche H,Lemke JR,Merkenschlager A,Syrbe S, Mol Syndromol. September 1, 2016; 7(4):1661-8769.

Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies., Loganathan SK,Schneider HP,Morgan PE,Deitmer JW,Casey JR, Am J Physiol Cell Physiol. November 1, 2016; 311(5):1522-1563.

An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation., Rothe M,Kanwal N,Dietmann P,Seigfried FA,Hempel A,Schütz D,Reim D,Engels R,Linnemann A,Schmeisser MJ,Bockmann J,Kühl M,Boeckers TM,Kühl SJ, Development. January 15, 2017; 144(2):1477-9129.

Association between Single-Nucleotide Polymorphisms of the hOGG1,NEIL1,APEX1, FEN1,LIG1, and LIG3 Genes and Alzheimer's Disease Risk., Kwiatkowski D,Czarny P,Toma M,Korycinska A,Sowinska K,Galecki P,Bachurska A,Bielecka-Kowalska A,Szemraj J,Maes M,Sliwinski T, Neuropsychobiology. January 1, 2016; 73(2):1423-0224.

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies., Møller RS,Wuttke TV,Helbig I,Marini C,Johannesen KM,Brilstra EH,Vaher U,Borggraefe I,Talvik I,Talvik T,Kluger G,Francois LL,Lesca G,de Bellescize J,Blichfeldt S,Chatron N,Holert N,Jacobs J,Swinkels M,Betzler C,Syrbe S,Nikanorova M,Myers CT,Larsen LH,Vejzovic S,Pendziwiat M,von Spiczak S,Hopkins S,Dubbs H,Mang Y,Mukhin K,Holthausen H,van Gassen KL,Dahl HA,Tommerup N,Mefford HC,Rubboli G,Guerrini R,Lemke JR,Lerche H,Muhle H,Maljevic S, Neurology. January 31, 2017; 88(5):1526-632X.

TALENs and CRISPR/Cas9 fuel genetically engineered clinically relevant Xenopus tropicalis tumor models., Naert T,Van Nieuwenhuysen T,Vleminckx K,Vleminckx K, Genesis. January 1, 2017; 55(1-2):1526-968X.

Opposing Effects of Valproic Acid Treatment Mediated by Histone Deacetylase Inhibitor Activity in Four Transgenic X. laevis Models of Retinitis Pigmentosa., Vent-Schmidt RYJ,Wen RH,Zong Z,Chiu CN,Tam BM,May CG,Moritz OL, J Neurosci. January 25, 2017; 37(4):1529-2401.

Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.

Mechanosensory Stimulation Evokes Acute Concussion-Like Behavior by Activating GIRKs Coupled to Muscarinic Receptors in a Simple Vertebrate., Li WC,Zhu XY,Ritson E, eNeuro. January 1, 2017; 4(2):2373-2822.

Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S., Ochi H,Kawaguchi A,Tanouchi M,Suzuki N,Kumada T,Iwata Y,Ogino H, Dev Biol. July 1, 2017; 427(1):1095-564X.

Modeling Dominant and Recessive Forms of Retinitis Pigmentosa by Editing Three Rhodopsin-Encoding Genes in Xenopus Laevis Using Crispr/Cas9., Feehan JM,Chiu CN,Stanar P,Tam BM,Ahmed SN,Moritz OL, Sci Rep. July 31, 2017; 7(1):2045-2322.

Antidepressant, anticonvulsant and antinociceptive effects of 3'-methoxy-6-methylflavone and 3'-hydroxy-6-methylflavone may involve GABAergic mechanisms., Karim N,Khan I,Ahmad N,Umar MN,Gavande N, Pharmacol Rep. October 1, 2017; 69(5):1734-1140.

The Xenopus tadpole: An in vivo model to screen drugs favoring remyelination., Mannioui A,Vauzanges Q,Fini JB,Henriet E,Sekizar S,Azoyan L,Thomas JL,Pasquier DD,Giovannangeli C,Demeneix B,Lubetzki C,Zalc B, Mult Scler. October 1, 2018; 24(11):1477-0970.

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery., Toriyama M,Lee C,Lee C,Lee C,Taylor SP,Duran I,Cohn DH,Bruel AL,Tabler JM,Drew K,Kelly MR,Kim S,Park TJ,Braun DA,Pierquin G,Biver A,Wagner K,Malfroot A,Panigrahi I,Franco B,Al-Lami HA,Yeung Y,Choi YJ,Duffourd Y,Faivre L,Rivière JB,Chen J,Liu KJ,Liu KJ,Marcotte EM,Hildebrandt F,Thauvin-Robinet C,Krakow D,Jackson PK,Wallingford JB, Nat Genet. June 1, 2016; 48(6):1546-1718.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies., Masnada S,Hedrich UBS,Gardella E,Schubert J,Kaiwar C,Klee EW,Lanpher BC,Gavrilova RH,Synofzik M,Bast T,Gorman K,King MD,Allen NM,Conroy J,Ben Zeev B,Tzadok M,Korff C,Dubois F,Ramsey K,Narayanan V,Serratosa JM,Giraldez BG,Helbig I,Marsh E,O'Brien M,Bergqvist CA,Binelli A,Porter B,Zaeyen E,Horovitz DD,Wolff M,Marjanovic D,Caglayan HS,Arslan M,Pena SDJ,Sisodiya SM,Balestrini S,Syrbe S,Veggiotti P,Lemke JR,Møller RS,Lerche H,Rubboli G, Brain. September 1, 2017; 140(9):1460-2156.

A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy., Gururaj S,Palmer EE,Sheehan GD,Kandula T,Macintosh R,Ying K,Morris P,Tao J,Dias KR,Zhu Y,Dinger ME,Cowley MJ,Kirk EP,Roscioli T,Sachdev R,Duffey ME,Bye A,Bhattacharjee A, Cell Rep. October 24, 2017; 21(4):2211-1247.

Gain-of-function HCN2 variants in genetic epilepsy., Li M,Maljevic S,Phillips AM,Petrovski S,Hildebrand MS,Burgess R,Mount T,Zara F,Striano P,Schubert J,Thiele H,Nürnberg P,Wong M,Weisenberg JL,Thio LL,Lerche H,Scheffer IE,Berkovic SF,Petrou S,Reid CA, Hum Mutat. February 1, 2018; 39(2):1098-1004.

A proteomic analysis of LRRK2 binding partners reveals interactions with multiple signaling components of the WNT/PCP pathway., Salašová A,Yokota C,Potěšil D,Zdráhal Z,Bryja V,Arenas E, Mol Neurodegener. July 11, 2017; 12(1):1750-1326.

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147., Stäubli A,Capatina N,Fuhrer Y,Munier FL,Labs S,Schorderet DF,Tiwari A,Verrey F,Heon E,Cheng CY,Wong TY,Berger W,Camargo SMR,Kloeckener-Gruissem B, Hum Mol Genet. November 1, 2017; 26(21):1460-2083.

Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy., McTague A,Nair U,Malhotra S,Meyer E,Trump N,Gazina EV,Papandreou A,Ngoh A,Ackermann S,Ambegaonkar G,Appleton R,Desurkar A,Eltze C,Kneen R,Kumar AV,Lascelles K,Montgomery T,Ramesh V,Samanta R,Scott RH,Tan J,Whitehouse W,Poduri A,Scheffer IE,Chong WKK,Cross JH,Topf M,Petrou S,Kurian MA, Neurology. January 2, 2018; 90(1):1526-632X.

Functional Reintegration of Sensory Neurons and Transitional Dendritic Reduction of Mitral/Tufted Cells during Injury-Induced Recovery of the Larval Xenopus Olfactory Circuit., Hawkins SJ,Weiss L,Offner T,Dittrich K,Hassenklöver T,Manzini I, Front Cell Neurosci. July 21, 2017; 11:1662-5102.

Targeted deletion of the aquaglyceroporin AQP9 is protective in a mouse model of Parkinson's disease., Stahl K,Rahmani S,Prydz A,Skauli N,MacAulay N,Mylonakou MN,Torp R,Skare Ø,Berg T,Leergaard TB,Paulsen RE,Ottersen OP,Amiry-Moghaddam M, PLoS One. January 1, 2018; 13(3):1932-6203.

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy., Becker F,Reid CA,Hallmann K,Tae HS,Phillips AM,Teodorescu G,Weber YG,Kleefuss-Lie A,Elger C,Perez-Reyes E,Petrou S,Kunz WS,Lerche H,Maljevic S, Epilepsia Open. August 5, 2017; 2(3):2470-9239.

The Effects of 4-Hydroxybenzoic Acid Identified from Bamboo (Dendrocalamus asper) Shoots on Kv1.4 Channel., Zhang J,Mohamad FH,Wong JH,Mohamad H,Ismail AH,Mohamed Yusoff AA,Osman H,Wong KT,Idris Z,Abdullah JM, Malays J Med Sci. February 1, 2018; 25(1):1394-195X.

Identification of a cono-RFamide from the venom of Conus textile that targets ASIC3 and enhances muscle pain., Reimers C,Lee CH,Lee CH,Lee CH,Kalbacher H,Tian Y,Hung CH,Schmidt A,Prokop L,Kauferstein S,Mebs D,Chen CC,Gründer S, Proc Natl Acad Sci U S A. April 25, 2017; 114(17):1091-6490.

Polymorphism of the LIG3 gene in keratoconus and Fuchs endothelial corneal dystrophy., Synowiec E,Wojcik KA,Izdebska J,Binczyk E,Szaflik J,Blasiak J,Szaflik JP, Cell Mol Biol (Noisy-le-grand). March 28, 2015; 61(1):0145-5680.

A novel MIP mutation in a Chinese family with congenital cataract., Yuan C,Han T,Su P,Liu M,Zhou X,Zhou X,Zhang D,Jia W,Wang A,Yue M,Xiang Z,Chen L,Zhang X, Ophthalmic Genet. August 1, 2018; 39(4):1744-5094.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study., May P,Girard S,Harrer M,Bobbili DR,Schubert J,Wolking S,Becker F,Lachance-Touchette P,Meloche C,Gravel M,Niturad CE,Knaus J,De Kovel C,Toliat M,Polvi A,Iacomino M,Guerrero-López R,Baulac S,Marini C,Thiele H,Altmüller J,Jabbari K,Ruppert AK,Jurkowski W,Lal D,Rusconi R,Cestèle S,Terragni B,Coombs ID,Reid CA,Striano P,Caglayan H,Siren A,Everett K,Møller RS,Hjalgrim H,Muhle H,Helbig I,Kunz WS,Weber YG,Weckhuysen S,Jonghe P,Sisodiya SM,Nabbout R,Franceschetti S,Coppola A,Vari MS,Kasteleijn-Nolst Trenité D,Baykan B,Ozbek U,Bebek N,Klein KM,Rosenow F,Nguyen DK,Dubeau F,Carmant L,Lortie A,Desbiens R,Clément JF,Cieuta-Walti C,Sills GJ,Auce P,Francis B,Johnson MR,Marson AG,Berghuis B,Sander JW,Avbersek A,McCormack M,Cavalleri GL,Delanty N,Depondt C,Krenn M,Zimprich F,Peter S,Nikanorova M,Kraaij R,van Rooij J,Balling R,Ikram MA,Uitterlinden AG,Avanzini G,Schorge S,Petrou S,Mantegazza M,Sander T,LeGuern E,Serratosa JM,Koeleman BPC,Palotie A,Lehesjoki AE,Nothnagel M,Nürnberg P,Maljevic S,Zara F,Cossette P,Krause R,Lerche H, Lancet Neurol. August 1, 2018; 17(8):1474-4465.

Nosip functions during vertebrate eye and cranial cartilage development., Flach H,Krieg J,Hoffmeister M,Dietmann P,Reusch A,Wischmann L,Kernl B,Riegger R,Oess S,Kühl SJ, Dev Dyn. September 1, 2018; 247(9):1058-8388.

Lack of response to quinidine in KCNT1-related neonatal epilepsy., Numis AL,Nair U,Datta AN,Sands TT,Oldham MS,Patel A,Li M,Gazina E,Petrou S,Cilio MR, Epilepsia. October 1, 2018; 59(10):1528-1167.

CRISPR/Cas9 disease models in zebrafish and Xenopus: The genetic renaissance of fish and frogs., Naert T,Vleminckx K,Vleminckx K, Drug Discov Today Technol. August 1, 2018; 28:1740-6749.

S4-S5 linker movement during activation and inactivation in voltage-gated K+ channels., Kalstrup T,Blunck R, Proc Natl Acad Sci U S A. July 17, 2018; 115(29):1091-6490.

Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening., Hou P,Eldstrom J,Shi J,Zhong L,McFarland K,Gao Y,Fedida D,Cui J, Nat Commun. November 23, 2017; 8(1):2041-1723.

A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G,Cifelli P,Roseti C,Thom M,van Vliet EA,Limatola C,Aronica E,Palma E, Epilepsia. November 1, 2018; 59(11):1528-1167.

Retinal tissue preparation for high-resolution live imaging of photoreceptors expressing multiple transgenes., Haeri M,Zhuo X,Haeri M,Knox BE, MethodsX. March 16, 2018; 5:2215-0161.

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy., Sega AG,Mis EK,Lindstrom K,Mercimek-Andrews S,Ji W,Cho MT,Juusola J,Konstantino M,Jeffries L,Khokha MK,Lakhani SA, J Med Genet. February 1, 2019; 56(2):1468-6244.

The low binding affinity of D-serine at the ionotropic glutamate receptor GluD2 can be attributed to the hinge region., Tapken D,Steffensen TB,Leth R,Kristensen LB,Gerbola A,Gajhede M,Jørgensen FS,Olsen L,Kastrup JS, Sci Rep. April 7, 2017; 7:2045-2322.

HCN2 Rescues brain defects by enforcing endogenous voltage pre-patterns., Pai VP,Pietak A,Willocq V,Ye B,Shi NQ,Levin M, Nat Commun. March 8, 2018; 9(1):2041-1723.

Electrophysiological Changes During Early Steps of Retinitis Pigmentosa., Bocchero U,Tam BM,Chiu CN,Torre V,Moritz OL, Invest Ophthalmol Vis Sci. March 1, 2019; 60(4):1552-5783.

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1., Ott T,Kaufmann L,Granzow M,Hinderhofer K,Bartram CR,Theiß S,Seitz A,Paramasivam N,Schulz A,Moog U,Blum M,Evers CM, Front Physiol. January 1, 2019; 10:1664-042X.

Structural basis of HEAT-kleisin interactions in the human condensin I subcomplex., Hara K,Kinoshita K,Migita T,Murakami K,Shimizu K,Takeuchi K,Hirano T,Hashimoto H, EMBO Rep. May 1, 2019; 20(5):1469-3178.

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance., Berland S,Toft-Bertelsen TL,Aukrust I,Byska J,Vaudel M,Bindoff LA,MacAulay N,Houge G, Cold Spring Harb Mol Case Stud. February 1, 2018; 4(1):2373-2873.

Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus., Date P,Ackermann P,Furey C,Fink IB,Jonas S,Khokha MK,Kahle KT,Deniz E, Sci Rep. April 17, 2019; 9(1):2045-2322.

Wolf-Hirschhorn Syndrome-Associated Genes Are Enriched in Motile Neural Crest Cells and Affect Craniofacial Development in Xenopus laevis., Mills A,Bearce E,Cella R,Kim SW,Selig M,Lee S,Lowery LA, Front Physiol. January 1, 2019; 10:1664-042X.

Aβ1-42 triggers the generation of a retrograde signaling complex from sentinel mRNAs in axons., Walker CA,Randolph LK,Matute C,Alberdi E,Baleriola J,Hengst U, EMBO Rep. July 1, 2018; 19(7):1469-3178.

Functional characterization of SMN evolution in mouse models of SMA., Osman EY,Bolding MR,Villalón E,Kaifer KA,Lorson ZC,Tisdale S,Hao Y,Conant GC,Pires JC,Pellizzoni L,Lorson CL, Sci Rep. July 1, 2019; 9(1):2045-2322.

The VAMP-associated protein VAPB is required for cardiac and neuronal pacemaker channel function., Silbernagel N,Walecki M,Schäfer MK,Kessler M,Zobeiri M,Rinné S,Kiper AK,Komadowski MA,Vowinkel KS,Wemhöner K,Fortmüller L,Schewe M,Dolga AM,Scekic-Zahirovic J,Matschke LA,Culmsee C,Baukrowitz T,Monassier L,Ullrich ND,Dupuis L,Just S,Budde T,Fabritz L,Decher N, FASEB J. November 1, 2018; 32(11):1530-6860.

NA3 glycan: a potential therapy for retinal pigment epithelial deficiency., Chintalapudi SR,Wang X,Wang X,Shi Y,Shi Y,Kocak M,Palamoor M,Davis RN,Hollingsworth TJ,Jablonski MM, FEBS J. December 1, 2019; 286(24):1742-4658.

Comparative Embryonic Spatio-Temporal Expression Profile Map of the Xenopus P2X Receptor Family., Blanchard C,Boué-Grabot E,Massé K, Front Cell Neurosci. January 1, 2019; 13:1662-5102.

Migraine-Associated TRESK Mutations Increase Neuronal Excitability through Alternative Translation Initiation and Inhibition of TREK., Royal P,Andres-Bilbe A,Ávalos Prado P,Verkest C,Wdziekonski B,Schaub S,Baron A,Lesage F,Gasull X,Levitz J,Sandoz G, Neuron. January 16, 2019; 101(2):0896-6273.

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy., Park J,Flores BR,Scherer K,Kuepper H,Rossi M,Rupprich K,Rautenberg M,Deininger N,Weichselbaum A,Grimm A,Sturm M,Grasshoff U,Delpire E,Haack TB, J Med Genet. April 1, 2020; 57(4):1468-6244.

Understanding cornea homeostasis and wound healing using a novel model of stem cell deficiency in Xenopus., Adil MT,Simons CM,Sonam S,Henry JJ, Exp Eye Res. October 1, 2019; 187:0014-4835.

Divergent roles of the Wnt/PCP Formin Daam1 in renal ciliogenesis., Corkins ME,Krneta-Stankic V,Kloc M,McCrea PD,Gladden AB,Miller RK, PLoS One. January 1, 2019; 14(8):1932-6203.

BAP1 regulates epigenetic switch from pluripotency to differentiation in developmental lineages giving rise to BAP1-mutant cancers., Kuznetsov JN,Aguero TH,Owens DA,Kurtenbach S,Field MG,Durante MA,Rodriguez DA,King ML,Harbour JW, Sci Adv. September 18, 2019; 5(9):2375-2548.

Atom-by-atom tuning of the electrostatic potassium-channel modulator dehydroabietic acid., Silverå Ejneby M,Wu X,Ottosson NE,Münger EP,Lundström I,Konradsson P,Elinder F, J Gen Physiol. May 7, 2018; 150(5):1540-7748.

Functional genomics of epilepsy-associated mutations in the GABAA receptor subunits reveal that one mutation impairs function and two are catastrophic., Absalom NL,Ahring PK,Liao VW,Balle T,Jiang T,Anderson LL,Arnold JC,McGregor IS,Bowen MT,Chebib M, J Biol Chem. April 12, 2019; 294(15):1083-351X.

Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions., Anderson LL,Absalom NL,Abelev SV,Low IK,Doohan PT,Martin LJ,Chebib M,McGregor IS,Arnold JC, Epilepsia. November 1, 2019; 60(11):1528-1167.

Volume sensing in the transient receptor potential vanilloid 4 ion channel is cell type-specific and mediated by an N-terminal volume-sensing domain., Toft-Bertelsen TL,Yarishkin O,Redmon S,Phuong TTT,Križaj D,MacAulay N, J Biol Chem. November 29, 2019; 294(48):1083-351X.

Late Endosomes Act as mRNA Translation Platforms and Sustain Mitochondria in Axons., Cioni JM,Lin JQ,Holtermann AV,Koppers M,Jakobs MAH,Azizi A,Turner-Bridger B,Shigeoka T,Franze K,Harris WA,Holt CE, Cell. January 10, 2019; 176(1-2):1097-4172.

Endoplasmic reticulum transmembrane protein TMTC3 contributes to O-mannosylation of E-cadherin, cellular adherence, and embryonic gastrulation., Graham JB,Sunryd JC,Mathavan K,Weir E,Larsen ISB,Halim A,Clausen H,Cousin H,Alfandari D,Alfandari D,Hebert DN, Mol Biol Cell. February 1, 2020; 31(3):1939-4586.

Modeling ocular lens disease in Xenopus., Viet J,Reboutier D,Hardy S,Lachke SA,Paillard L,Gautier-Courteille C, Dev Dyn. May 1, 2020; 249(5):1058-8388.

CFAP43 modulates ciliary beating in mouse and Xenopus., Rachev E,Schuster-Gossler K,Fuhl F,Ott T,Tveriakhina L,Beckers A,Hegermann J,Boldt K,Mai M,Kremmer E,Ueffing M,Blum M,Gossler A, Dev Biol. March 15, 2020; 459(2):1095-564X.

Disrupted ER membrane protein complex-mediated topogenesis drives congenital neural crest defects., Marquez J,Criscione J,Charney RM,Prasad MS,Hwang WY,Mis EK,García-Castro MI,Khokha MK, J Clin Invest. February 3, 2020; 130(2):1558-8238.

RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis., Naert T,Dimitrakopoulou D,Tulkens D,Demuynck S,Carron M,Noelanders R,Eeckhout L,Van Isterdael G,Deforce D,Vanhove C,Van Dorpe J,Creytens D,Vleminckx K,Vleminckx K, Oncogene. March 1, 2020; 39(13):0950-9232.

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models., Singh MD,Jensen M,Lasser M,Huber E,Yusuff T,Pizzo L,Lifschutz B,Desai I,Kubina A,Yennawar S,Kim S,Iyer J,Rincon-Limas DE,Lowery LA,Girirajan S, PLoS Genet. February 13, 2020; 16(2):1553-7404.

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders., Barbosa S,Greville-Heygate S,Bonnet M,Godwin A,Fagotto-Kaufmann C,Kajava AV,Laouteouet D,Mawby R,Wai HA,Dingemans AJM,Hehir-Kwa J,Willems M,Capri Y,Mehta SG,Cox H,Goudie D,Vansenne F,Turnpenny P,Vincent M,Cogné B,Lesca G,Hertecant J,Rodriguez D,Keren B,Burglen L,Gérard M,Putoux A,Cantagrel V,Siquier-Pernet K,Rio M,Banka S,Sarkar A,Steeves M,Parker M,Clement E,Moutton S,Tran Mau-Them F,Piton A,de Vries BBA,Guille M,Debant A,Schmidt S,Baralle D, Am J Hum Genet. March 5, 2020; 106(3):1537-6605.

FERM domain-containing protein 6 identifies a subpopulation of varicose nerve fibers in different vertebrate species., Beck J,Kressel M, Cell Tissue Res. July 1, 2020; 381(1):1432-0878.

Epilepsy-associated mutations in the voltage sensor of KCNQ3 affect voltage dependence of channel opening., Barro-Soria R, J Gen Physiol. February 4, 2019; 151(2):1540-7748.

The GRIA3 c.2477G > A Variant Causes an Exaggerated Startle Reflex, Chorea, and Multifocal Myoclonus., Piard J,Béreau M,XiangWei W,Wirth T,Amsallem D,Buisson L,Richard P,Liu N,Xu Y,Xu Y,Myers SJ,Traynelis SF,Chelly J,Anheim M,Raynaud M,Maldergem LV,Yuan H, Mov Disord. July 1, 2020; 35(7):1531-8257.

The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development., Beckers A,Adis C,Schuster-Gossler K,Tveriakhina L,Ott T,Fuhl F,Hegermann J,Boldt K,Serth K,Rachev E,Alten L,Kremmer E,Ueffing M,Blum M,Gossler A, Development. June 15, 2020; 147(21):1477-9129.

RPE Cells Engulf Microvesicles Secreted by Degenerating Rod Photoreceptors., Ropelewski P,Imanishi Y, eNeuro. January 1, 2020; 7(3):2373-2822.

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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.

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Dissecting the Molecular Determinants of GABAA Receptors Current Rundown, a Hallmark of Refractory Human Epilepsy., Cifelli P,Di Angelantonio S,Alfano V,Morano A,De Felice E,Aronica E,Ruffolo G,Palma E, Brain Sci. March 30, 2021; 11(4):2076-3425.

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A role for zinc transporter gene SLC39A12 in the nervous system and beyond., Davis DN,Strong MD,Chambers E,Hart MD,Bettaieb A,Clarke SL,Smith BJ,Stoecker BJ,Lucas EA,Lin D,Chowanadisai W, Gene. October 5, 2021; 799:1879-0038.

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Discovery of Dihydropyrrolo[1,2-a]pyrazin-3(4H)-one-Based Second-Generation GluN2C- and GluN2D-Selective Positive Allosteric Modulators (PAMs) of the N-Methyl-d-Aspartate (NMDA) Receptor., Epplin MP,Mohan A,Harris LD,Zhu Z,Strong KL,Bacsa J,Le P,Menaldino DS,Traynelis SF,Liotta DC, J Med Chem. July 23, 2020; 63(14):1520-4804.

Function of chromatin modifier Hmgn1 during neural crest and craniofacial development., Ihewulezi C,Saint-Jeannet JP, Genesis. October 1, 2021; 59(10):1526-968X.

Modeling human congenital disorders with neural crest developmental defects using patient-derived induced pluripotent stem cells., Okuno H,Okano H, Regen Ther. August 24, 2021; 18:2352-3204.

The Role of RNA-Binding Proteins in Vertebrate Neural Crest and Craniofacial Development., Forman TE,Dennison BJC,Fantauzzo KA, J Dev Biol. August 27, 2021; 9(3):2221-3759.

Physical basis for distinct basal and mechanically gated activity of the human K+ channel TRAAK., Rietmeijer RA,Sorum B,Li B,Brohawn SG, Neuron. September 15, 2021; 109(18):0896-6273.

Structural comparison of GLUT1 to GLUT3 reveal transport regulation mechanism in sugar porter family., Custódio TF,Paulsen PA,Frain KM,Pedersen BP, Life Sci Alliance. February 3, 2021; 4(4):2575-1077.

Teriflunomide Promotes Oligodendroglial 8,9-Unsaturated Sterol Accumulation and CNS Remyelination., Martin E,Aigrot MS,Lamari F,Bachelin C,Lubetzki C,Nait Oumesmar B,Zalc B,Stankoff B, Neurol Neuroimmunol Neuroinflamm. November 1, 2021; 8(6):2332-7812.

Translocation of TMEM175 Lysosomal Potassium Channel to the Plasma Membrane by Dynasore Compounds., Pergel E,Veres I,Csigi GI,Czirják G, Int J Mol Sci. September 29, 2021; 22(19):1422-0067.

Huntingtin CAG expansion impairs germ layer patterning in synthetic human 2D gastruloids through polarity defects., Galgoczi S,Ruzo A,Markopoulos C,Yoney A,Phan-Everson T,Li S,Haremaki T,Metzger JJ,Etoc F,Brivanlou AH, Development. October 1, 2021; 148(19):1477-9129.

Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease., Coppenrath K,Tavares ALP,Shaidani NI,Wlizla M,Moody SA,Horb M, Genesis. December 1, 2021; 59(12):1526-968X.

Membrane cholesterol regulates TRPV4 function, cytoskeletal expression, and the cellular response to tension., Lakk M,Hoffmann GF,Gorusupudi A,Enyong E,Lin A,Bernstein PS,Toft-Bertelsen T,MacAulay N,Elliott MH,Križaj D, J Lipid Res. January 1, 2021; 62:0022-2275.

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Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant., Tong JJ,Khan U,Haddad BG,Minogue PJ,Beyer EC,Berthoud VM,Reichow SL,Ebihara L, Biophys J. December 21, 2021; 120(24):1542-0086.

Ion permeation controlled by hydrophobic residues and proton binding in the proton-activated chloride channel., Cai R,Tang J,Chen XZ, iScience. November 1, 2021; 24(12):2589-0042.

Engineered Wnt ligands enable blood-brain barrier repair in neurological disorders., Martin M,Vermeiren S,Bostaille N,Eubelen M,Spitzer D,Vermeersch M,Profaci CP,Pozuelo E,Toussay X,Raman-Nair J,Tebabi P,America M,De Groote A,Sanderson LE,Cabochette P,Germano RFV,Torres D,Boutry S,de Kerchove d'Exaerde A,Bellefroid EJ,Phoenix TN,Devraj K,Lacoste B,Daneman R,Liebner S,Vanhollebeke B, Science. February 18, 2022; 375(6582):1095-9203.

16p12.1 Deletion Orthologs are Expressed in Motile Neural Crest Cells and are Important for Regulating Craniofacial Development in Xenopus laevis., Lasser M,Bolduc J,Murphy L,O'Brien C,Lee S,Girirajan S,Lowery LA, Front Genet. January 1, 2022; 13:1664-8021.

Reduced Retinoic Acid Signaling During Gastrulation Induces Developmental Microcephaly., Gur M,Bendelac-Kapon L,Shabtai Y,Pillemer G,Fainsod A, Front Cell Dev Biol. January 1, 2022; 10:2296-634X.

CRISPR/Cas9-Mediated Models of Retinitis Pigmentosa Reveal Differential Proliferative Response of Müller Cells between Xenopus laevis and Xenopus tropicalis., Parain K,Lourdel S,Donval A,Chesneau A,Borday C,Bronchain O,Locker M,Perron M, Cells. February 25, 2022; 11(5):2073-4409.

Pharmacological characterization of a novel negative allosteric modulator of NMDA receptors, UBP792., Sapkota K,Burnell ES,Irvine MW,Fang G,Gawande DY,Dravid SM,Jane DE,Monaghan DT, Neuropharmacology. December 15, 2021; 201:1873-7064.

ATP and large signaling metabolites flux through caspase-activated Pannexin 1 channels., Narahari AK,Kreutzberger AJ,Gaete PS,Chiu YH,Leonhardt SA,Medina CB,Jin X,Oleniacz PW,Kiessling V,Barrett PQ,Ravichandran KS,Yeager M,Contreras JE,Tamm LK,Bayliss DA, Elife. January 7, 2021; 10:2050-084X.

Cilia-localized GID/CTLH ubiquitin ligase complex regulates protein homeostasis of sonic hedgehog signaling components., Hantel F,Liu H,Fechtner L,Neuhaus H,Ding J,Arlt D,Walentek P,Villavicencio-Lorini P,Gerhardt C,Hollemann T,Pfirrmann T, J Cell Sci. May 1, 2022; 135(9):1477-9137.

Trafficking of the glutamate transporter is impaired in LRRK2-related Parkinson's disease., Iovino L,Giusti V,Pischedda F,Giusto E,Plotegher N,Marte A,Battisti I,Di Iacovo A,Marku A,Piccoli G,Bandopadhyay R,Perego C,Bonifacino T,Bonanno G,Roseti C,Bossi E,Arrigoni G,Bubacco L,Greggio E,Hilfiker S,Civiero L, Acta Neuropathol. July 1, 2022; 144(1):1432-0533.

Distinctive mechanisms of epilepsy-causing mutants discovered by measuring S4 movement in KCNQ2 channels., Edmond MA,Hinojo-Perez A,Wu X,Perez Rodriguez ME,Barro-Soria R, Elife. June 1, 2022; 11:2050-084X.

Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery., Williams RE,Mruk K, Int J Mol Sci. August 3, 2022; 23(15):1422-0067.

Functional characterization of a novel TP53RK mutation identified in a family with Galloway-Mowat syndrome., Treimer E,Kalayci T,Schumann S,Suer I,Greco S,Schanze D,Schmeisser MJ,Kühl SJ,Zenker M, Hum Mutat. December 1, 2022; 43(12):1098-1004.

The Flavonol Quercitrin Hinders GSK3 Activity and Potentiates the Wnt/β-Catenin Signaling Pathway., Predes D,Maia LA,Matias I,Araujo HPM,Soares C,Barros-Aragão FGQ,Oliveira LFS,Reis RR,Amado NG,Simas ABC,Mendes FA,Gomes FCA,Figueiredo CP,Abreu JG, Int J Mol Sci. October 11, 2022; 23(20):1422-0067.

GABAA receptor function is enhanced by Interleukin-10 in human epileptogenic gangliogliomas and its effect is counteracted by Interleukin-1β., Ruffolo G,Alfano V,Romagnolo A,Zimmer T,Mills JD,Cifelli P,Gaeta A,Morano A,Anink J,Mühlebner A,Vezzani A,Aronica E,Palma E, Sci Rep. October 26, 2022; 12(1):2045-2322.

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The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot-Marie-Tooth disease., Cinarli Yuksel F,Nicolaou P,Spontarelli K,Dohrn MF,Rebelo AP,Koutsou P,Georghiou A,Artigas P,Züchner SL,Kleopa KA,Christodoulou K, J Neurol. May 1, 2023; 270(5):1432-1459.

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