ATXN1 is the gene mutated in spinocerebellar ataxia type 1 (SCA1), a dominantly-inherited, fatal genetic disease in which neurons in the cerebellum and brain stem degenerate over the …

2025年3月30日 · ATXN1 (Ataxin 1) is a Protein Coding gene. Diseases associated with ATXN1 include Spinocerebellar Ataxia 1 and Dentatorubral-Pallidoluysian Atrophy. Among its related …

脊髓小脑共济失调1型 （SCA1）是一种常染色体显性 神经退行性疾病，以小脑萎缩为特征，伴有严重的 浦肯野细胞 （Purkinje cell）丢失。 ATXN1是一种罕见的AD相关基因，ATXN1等位基 …

1998年10月1日 · Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected …

2025年2月9日 · ATXN1 intermediate-length polyglutamine expansions are associated with amyotrophic lateral sclerosis. Lattante S, et al. Neurobiol Aging, 2018 Apr. PMID 29274668. …

2020年9月2日 · Ataxin-1 is a polyglutamine protein that is classically associated with the neurodegenerative disorder spinocerebellar ataxia type 1 (SCA1). Here, we show that ataxin-1 …

ATXN1 binds RNA, associates with large protein complexes, and interacts with a vast network of proteins. ATXN1 is thought to be involved in transcriptional repression and to regulate Notch …

2024年8月16日 · FUNCTION: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY …

The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown. Within cells, ataxin-1 is located in the nucleus.

This study supports three main conclusions: (1) formation of the ATXN1-CIC complex upon polyQ expansion is critical for cerebellar SCA1 phenotypes; (2) loss of the ATXN1-CIC complex does …