Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). The HSAN-VI mutation impacts all major neuronal BPAG1/dystonin protein isoforms: dystonin-a1,...

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Hlavní autoři: Ferrier, Andrew, Sato, Tadasu, De Repentigny, Yves, Gibeault, Sabrina, Bhanot, Kunal, O'Meara, Ryan W., Lynch-Godrei, Anisha, Kornfeld, Samantha F., Young, Kevin G., Kothary, Rashmi
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3990168/
https://ncbi.nlm.nih.gov/pubmed/24381311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt663
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