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 2020-05, Vol.15 (5), p.e0224912-e0224912
Hauptverfasser:	Nishi, Masamitsu, Kimura, Takashi, Igeta, Masataka, Furuta, Mitsuru, Suenaga, Koichi, Matsumura, Tsuyoshi, Fujimura, Harutoshi, Jinnai, Kenji, Yoshikawa, Hiroo
Format:	Artikel
Sprache:	eng
Schlagworte:	Alternative splicing Amyotrophic lateral sclerosis Ankylosing spondylitis Biology and Life Sciences Brain Central nervous system Cerebellum Comparative analysis Defects Diagnosis Disease control Diseases Dystrophy Exons Genes Genetic aspects Genetic engineering Internal medicine Kinases Medical imaging Medical schools Medicine Medicine and Health Sciences Musculoskeletal system Myotonic dystrophy Neurology Polymerase chain reaction Protein kinase Protein kinases Research and Analysis Methods Splicing factors Substantia alba Substantia grisea
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