Ataxin-1 is a DNA-binding protein which in humans is encoded by the ATXN1 gene. [5][6] Mutations in ataxin-1 cause spinocerebellar ataxia type 1, an inherited neurodegenerative disease characterized by a progressive loss of cerebellar neurons, particularly Purkinje neurons.

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 …

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.

Ataxin-1 (Atx1) is a protein associated with spinocerebellar ataxia type 1 (SCA1) that can be protected from aggregation and misfolding through protein-protein interactions, making it a target for drug development in neuroscience. You might find these chapters and articles relevant to …

2020年7月3日 · Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disease, associated with disabilities in coordination and movement and a marked...

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.

3 天之前 · Spinocerebellar Ataxia Type 1 (SCA1) is a progressive neurodegenerative disorder caused by the expansion and aggregation of polyglutamine (polyQ) in the Ataxin-1 (ATXN1) protein, leading to severe neuronal dysfunction. Currently, only symptomatic treatments are available, highlighting the requirement for disease-modifying therapies. This study employed a detailed in silico approach to identify ...

ataxin-1, alternative ataxin1, spinocerebellar ataxia type 1 protein. 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-kappaB-dependent inflammation response.

Ataxin 1 (Atx1) is a foci-forming polyglutamine protein of unknown function, whose mutant form causes type 1 spinocerebellar ataxia in humans and exerts neurotoxicity in transgenic mouse and fly expressing mutant Atx1. In this study, we demonstrate ...

Ataxin-1 (ATXN1), a causative factor for spinocerebellar ataxia type 1 (SCA1), and the related Brother of ATXN1 (BOAT1) are human proteins involved in transcriptional repression. So far, little is known about which transcriptional pathways mediate the effects of ATXN1 and BOAT1.