Preprint
A Patient-Derived Cellular Model for Huntington’s Disease Reveals Phenotypes at Clinically Relevant CAG Lengths
Abstract
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 …
Authors
Hung CL-K; Maiuri T; Bowie LE; Gotesman R; Son S; Falcone M; Giordano JV; Mattis V; Lau T; Kwan V
DOI
10.1101/291575
Preprint server
bioRxiv