Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

doi:10.1038/ng.3808

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Article

Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.

Nature genetics - 1 Apr 2017

Lu Hsiang-Chih, Tan Qiumin, Rousseaux Maxime W C, Wang Wei, Kim Ji-Yoen, Richman Ronald, Wan Ying-Wooi, Yeh Szu-Ying, Patel Jay M, Liu Xiuyun, Lin Tao, Lee Yoontae, Fryer John D, Han Jing, Chahrour Maria, Finnell Richard H, Lei Yunping, Zurita-Jimenez Maria E, Ahimaz Priyanka, Anyane-Yeboa Kwame, Van Maldergem Lionel, Lehalle Daphne, Jean-Marcais Nolwenn, Mosca-Boidron Anne-Laure, Thevenon Julien, Cousin Margot A, Bro Della E, Lanpher Brendan C, Klee Eric W, Alexander Nora, Bainbridge Matthew N, Orr Harry T, Sillitoe Roy V, Ljungberg M Cecilia, Liu Zhandong, Schaaf Christian P, Zoghbi Huda Y

Abstract excerpt

Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to...

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Identifiers

PMID: 28288114
DOI: 10.1038/ng.3808
PMCID: PMC5374026

Genes

CIC
ATXN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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