Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs

Myotonic dystrophy type 1 (DM1) is caused by expanded CTG repeats (CTGexp) in the dystrophia myotonica protein kinase (DMPK) gene, and the transcription products, expanded CUG repeats, sequester muscleblind like splicing regulator 1 (MBNL1), resulting in the nuclear MBNL1 aggregation in the DM1 cell...

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Detalles Bibliográficos
Autores principales: Kawada, Ryu, Jonouchi, Tatsuya, Kagita, Akihiro, Sato, Masae, Hotta, Akitsu, Sakurai, Hidetoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834395/
https://www.ncbi.nlm.nih.gov/pubmed/36631509
http://dx.doi.org/10.1038/s41598-022-26614-z

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