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Aberrant IP(3) receptor activities revealed by comprehensive analysis of pathological mutations causing spinocerebellar ataxia 29
Spinocerebellar ataxia type 29 (SCA29) is autosomal dominant congenital ataxia characterized by early-onset motor delay, hypotonia, and gait ataxia. Recently, heterozygous missense mutations in an intracellular Ca(2+) channel, inositol 1,4,5-trisphosphate (IP(3)) receptor type 1 (IP(3)R1), were iden...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6275503/ https://ncbi.nlm.nih.gov/pubmed/30429331 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1811129115 |
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