Učitavanje...
Leukoencephalopathy‐causing CLCN2 mutations are associated with impaired Cl(−) channel function and trafficking
KEY POINTS: Characterisation of most mutations found in CLCN2 in patients with CC2L leukodystrophy show that they cause a reduction in function of the chloride channel ClC‐2. GlialCAM, a regulatory subunit of ClC‐2 in glial cells and involved in the leukodystrophy megalencephalic leukoencephalopathy...
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| Izdano u: | J Physiol |
|---|---|
| Glavni autori: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5685823/ https://ncbi.nlm.nih.gov/pubmed/28905383 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP275087 |
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