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CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Ca(v)3.2 T-type calcium channel activity and reticular thalamic neuron firing
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SYSNO ASEP 0464731 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Ca(v)3.2 T-type calcium channel activity and reticular thalamic neuron firing Author(s) Rzhepetskyy, Yuriy (UOCHB-X)
Lazniewska, Joanna (UOCHB-X) ORCID
Blesneac, I. (GB)
Pamphlett, R. (AU)
Weiss, Norbert (UOCHB-X) ORCID, RIDSource Title Channels . - : Taylor & Francis - ISSN 1933-6950
Roč. 10, č. 6 (2016), s. 466-477Number of pages 12 s. Language eng - English Country US - United States Keywords ALS ; amyotrophic lateral sclerosis ; biophysics ; CACNA1H ; Ca(v)3 ; 2 channel Subject RIV CE - Biochemistry R&D Projects GA15-13556S GA ČR - Czech Science Foundation (CSF) 7AMB15FR015 GA MŠMT - Ministry of Education, Youth and Sports (MEYS) Institutional support UOCHB-X - RVO:61388963 UT WOS 000384450000006 EID SCOPUS 84978151048 DOI 10.1080/19336950.2016.1204497 Annotation Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. In a recent study by Steinberg and colleagues, 2 recessive missense mutations were identified in the Ca(v)3.2 T-type calcium channel gene (CACNA1H), in a family with an affected proband (early onset, long duration ALS) and 2 unaffected parents. We have introduced and functionally characterized these mutations using transiently expressed human Ca(v)3.2 channels in tsA-201 cells. Both of these mutations produced mild but significant changes on T-type channel activity that are consistent with a loss of channel function. Computer modeling in thalamic reticular neurons suggested that these mutations result in decreased neuronal excitability of thalamic structures. Taken together, these findings implicate CACNA1H as a susceptibility gene in amyotrophic lateral sclerosis. Workplace Institute of Organic Chemistry and Biochemistry Contact asep@uochb.cas.cz ; Kateřina Šperková, Tel.: 232 002 584 ; Jana Procházková, Tel.: 220 183 418 Year of Publishing 2017
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