Ataxin-1

A chromatin-binding factor that represses Notch signaling and associates with RNA. Expansion of the polyglutamine tract by expanded CAG repeats in the ATXN1 gene coding region is associated with SPINOCEREBELLAR ATAXIA 1.

Also Known As:

Networked: 222 relevant articles (7 outcomes, 17 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Orr, Harry T: 38 articles (01/2022 - 01/2002)
2.	Zoghbi, Huda Y: 34 articles (01/2022 - 01/2002)
3.	Botas, Juan: 12 articles (01/2022 - 05/2003)
4.	Cvetanovic, Marija: 11 articles (12/2021 - 07/2007)
5.	Kang, Seongman: 11 articles (11/2017 - 06/2002)
6.	Richman, Ronald: 9 articles (01/2022 - 12/2006)
7.	Hong, Sunghoi: 9 articles (05/2015 - 06/2002)
8.	Pastore, Annalisa: 9 articles (10/2014 - 05/2005)
9.	de Chiara, Cesira: 9 articles (10/2014 - 05/2005)
10.	Orr, H T: 9 articles (12/2001 - 02/2000)

Related Diseases

1.	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 08/01/2013 - "Here, we compared the protective effects of overexpressing ataxin-1-like using recombinant AAVs, or reducing expression of mutant ataxin-1 using virally delivered RNA interference (RNAi), in a transgenic mouse model of SCA1. " 01/01/2016 - "Furthermore, we show Mitf-mediated clearance of cytosolic and nuclear expanded ATXN1 (ataxin 1) in a cellular model of spinocerebellar ataxia type 1 (SCA1). " 10/06/2004 - "After cessation of SCA1[82Q] transgene expression, mutant ataxin-1, including that in nuclear inclusions, was cleared rapidly from Purkinje cells. " 08/01/2004 - "Upon intracerebellar injection, recombinant adeno-associated virus (AAV) vectors expressing short hairpin RNAs profoundly improved motor coordination, restored cerebellar morphology and resolved characteristic ataxin-1 inclusions in Purkinje cells of SCA1 mice. " 03/01/2014 - "In this study, we performed a systematic in vivo screen of all available Drosophila melanogaster homolog DNA repair genes, and we tested the effect of their overexpression on lifespan and developmental viability in Spinocerebellar Ataxia Type 1 (SCA1) Drosophila models expressing human mutant Ataxin-1 (Atxn1). "
2.	Nervous System Diseases (Neurological Disorders) 01/01/2008 - "We conclude that antisense RNAs were effective in reducing or modifying ataxin-1 messages in transfected cells, and may be an effective genetic strategy for therapy of SCA1 and similar dominant-acting neurological disorders." 01/01/2016 - "A polyglutamine expansion within the ataxin-1 protein (ATXN1) underlies spinocerebellar ataxia type-1 (SCA1), a neurological disorder mainly characterized by ataxia and cerebellar deficits. " 09/01/2012 - "Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurological disorder caused by the expansion of a polyglutamine tract in the mutant protein ataxin-1. "
3.	Atrophy 01/01/2017 - "While we have not observed significant improvement in the atrophy or disease-associated gene expression changes in Purkinje neurons upon PLX treatment, we have detected reduced expression of pro-inflammatory cytokine tumor necrosis factor alpha (TNFα) and increase in the protein levels of wild-type ataxin-1 and post-synaptic density protein 95 (PSD95) that may help improve PN function. "
4.	Neurodegenerative Diseases (Neurodegenerative Disease) 07/11/2014 - "Structural basis of the phosphorylation dependent complex formation of neurodegenerative disease protein Ataxin-1 and RBM17." 10/05/2007 - "The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2." 01/01/2020 - "Understanding how Ataxin-1 expression is regulated in the human brain could inspire novel molecular therapies for this fatal, dominantly inherited neurodegenerative disease. " 01/01/2020 - "In this study, we focus on Ataxin-1 (ATXN1), a dosage-sensitive gene involved in the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1). " 01/01/2023 - "Spinocerebellar ataxia type 1 (SCA1) is a paradigmatic neurodegenerative disease in that it is caused by a mutation in a broadly expressed protein, ATXN1; however, only select populations of cells degenerate. "
5.	Ataxia (Dyssynergia) 07/15/1998 - "Mice lacking ataxin-1 are viable, fertile, and do not show any evidence of ataxia or neurodegeneration. " 10/30/1997 - "Normal ataxin-1 localizes to several nuclear structures approximately 0.5 microm across, whereas the expanded ataxin-1 localizes to a single approximately 2-microm structure, before the onset of ataxia. " 08/01/2014 - "The mutated ataxin-1 protein in spinocerebellar ataxia 1 (SCA1) targets Purkinje cells (PCs) of the cerebellum and causes progressive ataxia due to loss of PCs and neurons of the brainstem. " 09/01/2001 - "Overexpression of mutant ataxin-1 in Purkinje cells of transgenic mice results in a progressive ataxia and Purkinje cell pathology that are very similar to those seen in SCA1 patients. " 06/29/1999 - "These mice developed ataxia and Purkinje cell abnormalities similar to those seen in SCA1 transgenic mice carrying full-length mutant ataxin-1, but lacked NIs. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	Ataxin-3
3.	Cytokines
4.	Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)
5.	polyglutamine
6.	Ubiquitin
7.	Proteasome Endopeptidase Complex (Proteasome)
8.	14-3-3 Proteins (14-3-3 Protein)
9.	Androgen Receptors (Androgen Receptor)
10.	Calbindin 1

Related Therapies and Procedures

1.	Therapeutics