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A patient-derived cellular model for Huntington’s...
Journal article

A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths

Abstract

The huntingtin protein participates in several cellular processes that are disrupted when the polyglutamine tract is expanded beyond a threshold of 37 CAG DNA repeats in Huntington's disease (HD). Cellular biology approaches to understand these functional disruptions in HD have primarily focused on cell lines with synthetically long CAG length alleles that clinically represent outliers in this disease and a more severe form of HD that lacks age …

Authors

Hung CL-K; Maiuri T; Bowie LE; Gotesman R; Son S; Falcone M; Giordano JV; Gillis T; Mattis V; Lau T

Journal

Molecular Biology of the Cell, Vol. 29, No. 23, pp. 2809–2820

Publisher

American Society for Cell Biology (ASCB)

Publication Date

November 15, 2018

DOI

10.1091/mbc.e18-09-0590

ISSN

1059-1524