Počet záznamů: 1
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 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název CACNA1H missense mutations associated with amyotrophic lateral sclerosis alter Ca(v)3.2 T-type calcium channel activity and reticular thalamic neuron firing Tvůrce(i) Rzhepetskyy, Yuriy (UOCHB-X)
Lazniewska, Joanna (UOCHB-X) ORCID
Blesneac, I. (GB)
Pamphlett, R. (AU)
Weiss, Norbert (UOCHB-X) ORCID, RIDZdroj.dok. Channels . - : Taylor & Francis - ISSN 1933-6950
Roč. 10, č. 6 (2016), s. 466-477Poč.str. 12 s. Jazyk dok. eng - angličtina Země vyd. US - Spojené státy americké Klíč. slova ALS ; amyotrophic lateral sclerosis ; biophysics ; CACNA1H ; Ca(v)3 ; 2 channel Vědní obor RIV CE - Biochemie CEP GA15-13556S GA ČR - Grantová agentura ČR 7AMB15FR015 GA MŠMT - Ministerstvo školství, mládeže a tělovýchovy Institucionální podpora UOCHB-X - RVO:61388963 UT WOS 000384450000006 EID SCOPUS 84978151048 DOI 10.1080/19336950.2016.1204497 Anotace 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. Pracoviště Ústav organické chemie a biochemie Kontakt asep@uochb.cas.cz ; Kateřina Šperková, Tel.: 232 002 584 ; Viktorie Chládková, Tel.: 232 002 434 Rok sběru 2017
Počet záznamů: 1