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Summary Literature (28)
Literature for DOID 870: neuropathy


Xenbase Articles :
( Denotes literature images)
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.
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.
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.
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.
Rapid functional analysis in Xenopus oocytes of Po protein adhesive interactions., Yoshida M,Colma DR, Neurochem Res. June 1, 2001; 26(6):1573-6903.
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.
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.
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 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.
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.
Acetylcholine receptor gating in a zebrafish model for slow-channel syndrome., Walogorsky M,Mongeon R,Wen H,Mandel G,Brehm P, J Neurosci. June 6, 2012; 32(23):1529-2401.
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.
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.
Using Xenopus to understand human disease and developmental disorders., Sater AK,Moody SA, Genesis. January 1, 2017; 55(1-2):1526-968X.
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.
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.
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.
Interplay of TRIM2 E3 Ubiquitin Ligase and ALIX/ESCRT Complex: Control of Developmental Plasticity During Early Neurogenesis., Lokapally A,Neuhaus H,Herfurth J,Hollemann T, Cells. July 20, 2020; 9(7):2073-4409.
Grp94 Regulates the Recruitment of Aneural AChR Clusters for the Assembly of Postsynaptic Specializations by Modulating ADF/Cofilin Activity and Turnover., Chan ZC,Deng L,Lee CW,Lee CW,Lee CW, eNeuro. September 8, 2020; 7(5):2373-2822.
Uncoupling sodium channel dimers restores the phenotype of a pain-linked Nav 1.7 channel mutation., Rühlmann AH,Körner J,Hausmann R,Bebrivenski N,Neuhof C,Detro-Dassen S,Hautvast P,Benasolo CA,Meents J,Machtens JP,Schmalzing G,Lampert A, Br J Pharmacol. October 1, 2020; 177(19):1476-5381.
Acute consequences of a unilateral VIIIth nerve transection on vestibulo-ocular and optokinetic reflexes in Xenopus laevis tadpoles., Soupiadou P,Gordy C,Forsthofer M,Sanchez-Gonzalez R,Straka H, J Neurol. December 1, 2020; 267(Suppl 1):1432-1459.
Building neuromuscular junctions in vitro., Barbeau S,Tahraoui-Bories J,Legay C,Martinat C, Development. November 16, 2020; 147(22):1477-9129.
Phosphorylation of a chronic pain mutation in the voltage-gated sodium channel Nav1.7 increases voltage sensitivity., Kerth CM,Hautvast P,Körner J,Lampert A,Meents JE, J Biol Chem. January 1, 2021; 296:1083-351X.
GlyT1 encephalopathy: Characterization of presumably disease causing GlyT1 mutations., Hauf K,Barsch L,Bauer D,Buchert R,Armbruster A,Frauenfeld L,Grasshoff U,Eulenburg V, Neurochem Int. October 1, 2020; 139:1872-9754.
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.
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.
Advancements in the use of xenopus oocytes for modelling neurological disease for novel drug discovery., O'Connor EC,Kambara K,Bertrand D, Expert Opin Drug Discov. February 1, 2024; 19(2):1746-045X.