Ataxin is a type of nuclear protein. The class is called ataxin because mutated forms of these proteins and their corresponding genes were found to cause progressive ataxia.. Some examples, their coding genes and associated diseases include: [1]: 6 Ataxin 1, coded by ATXN1.Mutants of ataxin 1 with a polyglutamine expansion cause SCA1.; Ataxin 2, coded by ATXN2.

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. Genetics

2017年4月12日 · A decrease in ataxin-2 levels leads to a reduction in the aggregation of TDP-43, markedly increased lifespan and improved motor function in a transgenic mouse model of TDP-43 proteinopathy. Ataxin ...

2020年7月3日 · Ataxin-1[85Q] nuclear bodies are enhanced by arsenite stress. To define the suitability of the polyQ-ataxin-1 constructs GFP-ataxin-1[85Q] and MBI-ataxin-1[85Q] for interactome analyses in Neuro ...

2023年10月14日 · Targeting ataxin-2 with RfxCas13d. Because of its ability to influence TDP-43-associated toxicity 20,25,26, ataxin-2 has emerged as a potentially broadly applicable target for ALS-FTD, as TDP-43 ...

Abstract Purpose of review. To provide an update on the role of Ataxin-2 gene (ATXN2) in health and neurological diseases.Recent findings. There is a growing complexity emerging on the role of ATXN2 and its variants in association with SCA2 and several other neurological diseases. Polymorphisms and intermediate alleles in ATXN2 establish this …

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.Gene Ontology (GO) annotations related to this gene include identical protein binding and chromatin binding.

Moreover, Ataxin-2 represses R-loop accumulation-driven genome instability in yeast and human cells. Overall, Ataxin-2 functions impact many metabolic processes and intersect with different disease-linked factors in human neurodegenerative diseases. Acknowledgments. We thank members of the Mekhail laboratory for fruitful discussions.

RNA-binding proteins play fundamental roles in the regulation of molecular processes critical to cellular and organismal homeostasis. Recent studies have identified the RNA-binding protein Ataxin-2 as a genetic determinant or risk factor for various diseases including spinocerebellar ataxia type II (SCA2) and amyotrophic lateral sclerosis (ALS), amongst others. Here, …

2024年3月19日 · 此外，研究人员还考虑了ataxin-3的DUB功能的潜在神经保护效应以及ataxin-3作为DUB酶和基因转录调节因子的交叉点。 研究意义 本研究的创新点在于深入探讨了ataxin-3作为DUB酶的功能，以及其在MJD和其他疾病中的作用。