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Article

ATXN1 protein family and CIC regulate extracellular matrix remodeling and lung alveolarization.

Developmental cell - 18 Oct 2011

Lee Yoontae, Fryer John D, Kang Hyojin, Crespo-Barreto Juan, Bowman Aaron B, Gao Yan, Kahle Juliette J, Hong Jeong Soo, Kheradmand Farrah, Orr Harry T, Finegold Milton J, Zoghbi Huda Y

Abstract excerpt

Although expansion of CAG repeats in ATAXIN1 (ATXN1) causes Spinocerebellar ataxia type 1, the functions of ATXN1 and ATAXIN1-Like (ATXN1L) remain poorly understood. To investigate the function of these proteins, we generated and characterized Atxn1L(-/-) and Atxn1(-/-); Atxn1L(-/-) mice. Atxn1L(-/-) mice have hydrocephalus, omphalocele, and lung alveolarization defects. These phenotypes are more penetrant and...

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Identifiers

PMID: 22014525
DOI: 10.1016/j.devcel.2011.08.017
PMCID: PMC3253850

Genes

ATXN1
CIC
MMP9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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