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Implications of Poly(A) Tail Processing in Repeat Expansion Diseases

15 Feb 2022

Abstract excerpt

Repeat expansion diseases are a group of more than 40 disorders that affect mainly the nervous and/or muscular system and include myotonic dystrophies, Huntington's disease, and fragile X syndrome. The mutation-driven expanded repeat tract occurs in specific genes and is composed of tri- to dodeca-nucleotide-long units. Mutant mRNA is a pathogenic factor or important contributor to the disease and has great...

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PMID: 35203324
DOI: 10.3390/cells11040677

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