Abstract
SCA8 CAG/CTG Expansions, a Tale of Two TOXICities: A Unique or Common Case?
Highlights
A dozen dominant genetic disorders are caused by aberrant expansions of CAG or CTG trinucleotide repeats
CAG repeat–associated diseases represent a group of neurological disorders, including Huntington’s disease, dentatorubral pallidoluysian atrophy, spinal and bulbar muscular atrophy, and several spinocerebellar ataxias (SCA1–3, 6, 7, and 17), which are all caused by an expansion of CAG repeats in the coding region of genes with otherwise no other common features
It has been widely accepted that toxic RNA gain-of-function and toxic protein gain-of-function mechanisms underlie the distinction between CTG and CAG repeat–associated diseases
Summary
A dozen dominant genetic disorders are caused by aberrant expansions of CAG or CTG trinucleotide repeats. SCA8 CAG/CTG Expansions, a Tale of Two TOXICities: A Unique or Common Case? As these repeats are complementary sequences, the expansions are incurred by both strands.
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