A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells

At the neuromuscular junction, the downstream of tyrosine kinase 7 (DOK7) enhances the phosphorylation of muscle-specific kinase (MuSK) and induces clustering of acetylcholine receptors (AChRs). We identified a patient with congenital myasthenic syndrome (CMS) with two heteroallelic mutations in DOK...

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Detalles Bibliográficos
Autores principales: Zhang, Shaochuan, Ohkawara, Bisei, Ito, Mikako, Huang, Zhizhou, Zhao, Fei, Nakata, Tomohiko, Takeuchi, Tomoya, Sakurai, Hidetoshi, Komaki, Hirofumi, Kamon, Masayoshi, Araki, Toshiyuki, Ohno, Kinji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117378/
https://www.ncbi.nlm.nih.gov/pubmed/36579833
http://dx.doi.org/10.1093/hmg/ddac306

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10117378/
https://www.ncbi.nlm.nih.gov/pubmed/36579833
http://dx.doi.org/10.1093/hmg/ddac306

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