Article
Macroscopic and microscopic diversity of missplicing in the central nervous system of patients with myotonic dystrophy type 1.
Neuroreport - 7 Feb 2018
Furuta Mitsuru, Kimura Takashi, Nakamori Masayuki, Matsumura Tsuyoshi, Fujimura Harutoshi, Jinnai Kenji, Takahashi Masanori P, Mochizuki Hideki, Yoshikawa Hiroo
Abstract excerpt
Myotonic dystrophy type I (DM1) is a multiorgan disease caused by CTG-repeat expansion in the DMPK gene. Sequestration of the splicing factor MBNL1 results in aberrant splicing in many genes in DM1 skeletal muscle, whereas MBNL2 plays a leading role in missplicing in the central nervous system (CNS) of patients with DM1. Splicing misregulation of most MBNL2-regulated genes occurs in the temporal cortex but not in...
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