Transit Defect of Potassium-Chloride Co-transporter 3 Is a Major Pathogenic Mechanism in Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

Missense and protein-truncating mutations of the human potassium-chloride co-transporter 3 gene (KCC3) cause hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), which is a severe neurodegenerative disease characterized by axonal dysfunction and neurodevelopmental...

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Hlavní autoři: Salin-Cantegrel, Adèle, Rivière, Jean-Baptiste, Shekarabi, Masoud, Rasheed, Sarah, DaCal, Sandra, Laganière, Janet, Gaudet, Rébecca, Rochefort, Daniel, Lesca, Gaëtan, Gaspar, Claudia, Dion, Patrick A., Lapointe, Jean-Yves, Rouleau, Guy A.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2011
Témata:
Molecular Bases of Disease
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3151088/
https://ncbi.nlm.nih.gov/pubmed/21628467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.226894
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