hereditary ataxia

Literature (18)

Literature for DOID 0050951: hereditary ataxia

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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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.
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.
Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain., Imbrici P,D'Adamo MC,Grottesi A,Biscarini A,Pessia M, Am J Physiol Cell Physiol. June 1, 2011; 300(6):1522-1563.
ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair., Cosentino C,Grieco D,Costanzo V, EMBO J. February 2, 2011; 30(3):0261-4189.
Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures., Ishida S,Sakamoto Y,Nishio T,Baulac S,Kuwamura M,Ohno Y,Takizawa A,Kaneko S,Serikawa T,Mashimo T, Dev Biol. January 30, 2012; 1435:0012-1606.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.
Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes., Hotzy J,Schneider N,Kovermann P,Fahlke C, J Biol Chem. December 20, 2013; 288(51):1083-351X.
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.
Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.
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.
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.
KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.
Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker., Hasan S,Megaro A,Cenciarini M,Coretti L,Botti FM,Imbrici P,Steinbusch HWM,Hunter T,Hunter G,Pessia M,D'Adamo MC, Pflugers Arch. July 1, 2020; 472(7):1432-2013.
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.
Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine., Manville RW,Abbott GW, J Pharmacol Exp Ther. June 1, 2020; 373(3):1521-0103.
A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel., Zhao J,Petitjean D,Haddad GA,Batulan Z,Blunck R, Int J Mol Sci. October 14, 2020; 21(20):1422-0067.
Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.
Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide., Zhao R,Qasim A,Sophanpanichkul P,Dai H,Nayak M,Sher I,Chill J,Goldstein SAN, FASEB J. January 1, 2024; 38(1):1530-6860.

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.

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.

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain., Imbrici P,D'Adamo MC,Grottesi A,Biscarini A,Pessia M, Am J Physiol Cell Physiol. June 1, 2011; 300(6):1522-1563.

ATM activates the pentose phosphate pathway promoting anti-oxidant defence and DNA repair., Cosentino C,Grieco D,Costanzo V, EMBO J. February 2, 2011; 30(3):0261-4189.

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures., Ishida S,Sakamoto Y,Nishio T,Baulac S,Kuwamura M,Ohno Y,Takizawa A,Kaneko S,Serikawa T,Mashimo T, Dev Biol. January 30, 2012; 1435:0012-1606.

KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16., Parrock S,Hussain S,Issler N,Differ AM,Lench N,Guarino S,Oosterveld MJ,Keijzer-Veen M,Brilstra E,van Wieringen H,Konijnenberg AY,Amin-Rasip S,Dumitriu S,Klootwijk E,Knoers N,Bockenhauer D,Kleta R,Zdebik AA, Nephron Physiol. January 1, 2013; 123(3-4):1660-2137.

Mutating a conserved proline residue within the trimerization domain modifies Na+ binding to excitatory amino acid transporters and associated conformational changes., Hotzy J,Schneider N,Kovermann P,Fahlke C, J Biol Chem. December 20, 2013; 288(51):1083-351X.

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.

Channelopathies: ion channel defects linked to heritable clinical disorders., Felix R, J Med Genet. October 1, 2000; 37(10):1468-6244.

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.

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.

KCNC1-related disorders: new de novo variants expand the phenotypic spectrum., Park J,Koko M,Hedrich UBS,Hermann A,Cremer K,Haberlandt E,Grimmel M,Alhaddad B,Beck-Woedl S,Harrer M,Karall D,Kingelhoefer L,Tzschach A,Matthies LC,Strom TM,Ringelstein EB,Sturm M,Engels H,Wolff M,Lerche H,Haack TB, Ann Clin Transl Neurol. July 1, 2019; 6(7):2328-9503.

Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker., Hasan S,Megaro A,Cenciarini M,Coretti L,Botti FM,Imbrici P,Steinbusch HWM,Hunter T,Hunter G,Pessia M,D'Adamo MC, Pflugers Arch. July 1, 2020; 472(7):1432-2013.

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.

Isoform-Selective KCNA1 Potassium Channel Openers Built from Glycine., Manville RW,Abbott GW, J Pharmacol Exp Ther. June 1, 2020; 373(3):1521-0103.

A Common Kinetic Property of Mutations Linked to Episodic Ataxia Type 1 Studied in the Shaker Kv Channel., Zhao J,Petitjean D,Haddad GA,Batulan Z,Blunck R, Int J Mol Sci. October 14, 2020; 21(20):1422-0067.

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypes., Li X,Zheng Y,Li S,Nair U,Sun C,Zhao C,Lu J,Zhang VW,Maljevic S,Petrou S,Lin J, Ann Transl Med. September 1, 2021; 9(18):2305-5839.

Selective block of human Kv1.1 channels and an epilepsy-associated gain-of-function mutation by AETX-K peptide., Zhao R,Qasim A,Sophanpanichkul P,Dai H,Nayak M,Sher I,Chill J,Goldstein SAN, FASEB J. January 1, 2024; 38(1):1530-6860.