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Expanded polyalanine tracts function as nuclear export signals and promote protein mislocalization via eEF1A1 factor

1 Mar 2017

Abstract excerpt

Polyalanine (poly(A)) diseases are caused by the expansion of translated GCN triplet nucleotide sequences encoding poly(A) tracts in proteins. To date, nine human disorders have been found to be associated with poly(A) tract expansions, including congenital central hypoventilation syndrome and oculopharyngeal muscular dystrophy. Previous studies have demonstrated that unexpanded wild-type poly(A)-containing...

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PMID: 28246169
DOI: 10.1074/jbc.m116.763599

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