Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy

Short Tandem Repeat Expansions and RNA-Mediated Pathogenesis in Myotonic Dystrophy

Short tandem repeat (STR) or microsatellite, expansions underlie more than 50 hereditary neurological, neuromuscular and other diseases, including myotonic dystrophy types 1 (DM1) and 2 (DM2). Current disease models for DM1 and DM2 propose a common pathomechanism, whereby the transcription of mutant...

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Bibliographic Details
Main Authors: Łukasz J. Sznajder, Maurice S. Swanson
Format: Article
Language:English
Published: MDPI AG 2019-07-01
Series:International Journal of Molecular Sciences
Subjects:
myotonic dystrophy
ALS/FTD
microsatellite expansion
STR
alternative splicing
MBNL
RBFOX
CELF
phase separation
foci
Online Access:https://www.mdpi.com/1422-0067/20/13/3365

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https://www.mdpi.com/1422-0067/20/13/3365

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