Differences in splicing defects between the grey and white matter in myotonic dystrophy type 1 patients

Myotonic dystrophy type 1 (DM1) is a multi-system disorder caused by CTG repeats in the myotonic dystrophy protein kinase (DMPK) gene. This leads to the sequestration of splicing factors such as muscleblind-like 1/2 (MBNL1/2) and aberrant splicing in the central nervous system. We investigated the s...

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Veröffentlicht in:PLoS One
Hauptverfasser: Nishi, Masamitsu, Kimura, Takashi, Igeta, Masataka, Furuta, Mitsuru, Suenaga, Koichi, Matsumura, Tsuyoshi, Fujimura, Harutoshi, Jinnai, Kenji, Yoshikawa, Hiroo
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2020
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7224547/
https://ncbi.nlm.nih.gov/pubmed/32407311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0224912
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