Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotoni...
Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 cells. Loss of MBNL1 function is the pivotal m...
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Full title
Establishment of quantitative and consistent in vitro skeletal muscle pathological models of myotonic dystrophy type 1 using patient-derived iPSCs
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TN_cdi_doaj_primary_oai_doaj_org_article_fa71afad8748492e95365ac375fec8b3
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fa71afad8748492e95365ac375fec8b3
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-022-26614-z
