Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

Dystonin (DST), which encodes cytoskeletal linker proteins, expresses three tissue-selective isoforms: neural DST-a, muscular DST-b, and epithelial DST-e. DST mutations cause different disorders, including hereditary sensory and autonomic neuropathy 6 (HSAN-VI) and epidermolysis bullosa simplex; how...

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Detalles Bibliográficos
Autores principales: Yoshioka, Nozomu, Kurose, Masayuki, Yano, Masato, Tran, Dang Minh, Okuda, Shujiro, Mori-Ochiai, Yukiko, Horie, Masao, Nagai, Toshihiro, Nishino, Ichizo, Shibata, Shinsuke, Takebayashi, Hirohide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365387/
https://www.ncbi.nlm.nih.gov/pubmed/35942699
http://dx.doi.org/10.7554/eLife.78419

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9365387/
https://www.ncbi.nlm.nih.gov/pubmed/35942699
http://dx.doi.org/10.7554/eLife.78419

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