A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of Ca(v)3.2 T-type channel activity

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the progressive loss of cortical, brain stem and spinal motor neurons that leads to muscle weakness and death. A previous study implicated CACNA1H encoding for Ca(v)3.2 calcium channels as a susceptibility gene in A...

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Detalles Bibliográficos
Autores principales: Stringer, Robin N., Jurkovicova-Tarabova, Bohumila, Huang, Sun, Haji-Ghassemi, Omid, Idoux, Romane, Liashenko, Anna, Souza, Ivana A., Rzhepetskyy, Yuriy, Lacinova, Lubica, Van Petegem, Filip, Zamponi, Gerald W., Pamphlett, Roger, Weiss, Norbert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060640/
https://www.ncbi.nlm.nih.gov/pubmed/32143681
http://dx.doi.org/10.1186/s13041-020-00577-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060640/
https://www.ncbi.nlm.nih.gov/pubmed/32143681
http://dx.doi.org/10.1186/s13041-020-00577-6

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