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 course of years or decades. [8]

2024年12月24日 · ATXN1 (Ataxin 1) is a Protein Coding gene. Diseases associated with ATXN1 include Spinocerebellar Ataxia 1 and Dentatorubral-Pallidoluysian Atrophy. Among its related pathways are Akt Signaling and Autodegradation of the E3 ubiquitin ligase COP1.

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 individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia.

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. What's a GeneRIF? Expanded ATXN1 alters transcription and calcium signaling in SCA1 human motor neurons differentiated from induced pluripotent stem cells.

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 等位基因 中扩增的CAG重复序列，编码Ataxin-1 N端区域的聚 谷氨酰胺 (polyQ)束，与Capicua (CIC)相互结合，介导的功能获得机制驱动小脑退行性病变 【5,6】。 有趣的发现是，polyQ扩增的ataxin-1除了功能的获得外，还丧失了部分功能，尤其是在非小脑区域，随着疾病的进展突变蛋白的聚集更 …

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.

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 (see 190198)- and Capicua (CIC; 612082)-controlled developmental processes …

Using unbiased proteomics, we identified three ATXN1-interacting transcription factors: RFX1, ZBTB5, and ZKSCAN1. We observed altered expression of RFX1 and ZKSCAN1 target genes in SCA1 mice and patient-derived iNeurons, highlighting their potential contributions to disease.

Expanded ATXN1 alters transcription and calcium signaling in SCA1 human motor neurons differentiated from induced pluripotent stem cells. Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF …

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 promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the …