Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

Loss-of-function mutations in dystonin (DST) can cause hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) or epidermolysis bullosa simplex (EBS). Recently, DST-related diseases were recognized to be more complex than previously thought because a patient exhibited both neurological and skin...

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Bibliographic Details
Main Authors: Nozomu Yoshioka, Yudai Kabata, Momona Kuriyama, Norihisa Bizen, Li Zhou, Dang M. Tran, Masato Yano, Atsushi Yoshiki, Tatsuo Ushiki, Thomas J. Sproule, Riichiro Abe, Hirohide Takebayashi
Format: Article
Language:English
Published: The Company of Biologists 2020-05-01
Series:Disease Models & Mechanisms
Subjects:
dystonia musculorum mice
dystonin/bpag1
hemidesmosome
neuropathy
Online Access:http://dmm.biologists.org/content/13/5/dmm041608

Internet

http://dmm.biologists.org/content/13/5/dmm041608

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