Article

Alternative splicing of <i>SORBS1</i> affects neuromuscular junction formation and stability in myotonic dystrophy type 1

2024-12-23

Abstract excerpt

<h4>ABSTRACT</h4> Myotonic dystrophy type 1 (DM1) is a multisystemic neuromuscular disease characterized by a CTG repeat expansion in the 3’ untranslated region of the gene coding for the dystrophia myotonica protein kinase (DMPK). Presence of expanded CTG repeats in DMPK-mRNAs leads to the sequestration of RNA binding factors such as the Muscleblind like (MBNL) proteins resulting in widespread splicing defects...

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Literature Corpus work: aed0a448-f08f-5ca4-b389-99f6938a3ce0
DOI: 10.1101/2024.12.23.630072

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