Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant Ca(V)2.1 channels

Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions within the voltage-gated calcium (Ca(V)) 2.1 channel gene. It remains controversial whether the mutation exerts neurotoxicity by changing the function of Ca(V)2.1 channel or through a gain-of-functio...

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Main Authors: Watase, Kei, Barrett, Curtis F., Miyazaki, Taisuke, Ishiguro, Taro, Ishikawa, Kinya, Hu, Yuanxin, Unno, Toshinori, Sun, Yaling, Kasai, Sayumi, Watanabe, Masahiko, Gomez, Christopher M., Mizusawa, Hidehiro, Tsien, Richard W., Zoghbi, Huda Y.
Format: Artigo
Jezik:Inglês
Izdano: National Academy of Sciences 2008
Teme:
Biological Sciences
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2503926/
https://ncbi.nlm.nih.gov/pubmed/18687887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0804350105
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