Article
Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.
Human molecular genetics - 15 May 2014
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
Abstract excerpt
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, -a2 and -a3. Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed dystonia...
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