Ataxin-2

A Poly(A) RNA-binding protein that negatively regulates EGFR ENDOCYTOSIS. An increased risk for developing AMYOTROPHIC LATERAL SCLEROSIS 13 is observed in patients who have more than 23 CAG repeats in the ATXN2 gene coding sequence. Larger CAG expansions in the ATXN2 gene occur in SPINOCEREBELLAR ATAXIA 2 patients.

Also Known As:

ATXN2 Protein; Ataxin-2 Protein; Atx-2 Protein; SCA2 Protein; Spinocerebellar Ataxia Type 2 Protein; Ataxin 2; Ataxin 2 Protein; Atx 2 Protein; Protein, ATXN2; Protein, Ataxin-2; Protein, Atx-2; Protein, SCA2

Networked: 158 relevant articles (2 outcomes, 7 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Auburger, Georg: 17 articles (01/2021 - 05/2008)
2.	Pulst, Stefan M: 12 articles (01/2022 - 07/2003)
3.	Gitler, Aaron D: 9 articles (01/2018 - 08/2010)
4.	Gispert, Suzana: 7 articles (01/2021 - 01/2012)
5.	Krobitsch, Sylvia: 7 articles (01/2017 - 02/2005)
6.	Nowock, Joachim: 5 articles (01/2019 - 01/2003)
7.	Figueroa, Karla P: 5 articles (01/2018 - 12/2003)
8.	Lehrach, Hans: 5 articles (01/2012 - 02/2005)
9.	Huynh, Duong P: 5 articles (07/2009 - 07/2003)
10.	Paul, Sharan: 4 articles (01/2022 - 04/2015)

Related Diseases

1.	Body Weight (Weight, Body) 01/01/2023 - "Ataxin-2 re-establishment in Atxn2 KO mice improved metabolic dysfunction without changing body weight. " 01/01/2017 - "Emerging studies discussed here now show that ataxin-2 deficiency correlates with insulin resistance and dyslipidemia, an action mediated via the mTOR pathway, suggesting that ataxin-2 might play key roles in metabolic homeostasis including body weight regulation, insulin sensitivity, and cellular stress responses. " 03/01/2008 - "Interestingly, polyphagia and obesity were striking manifestations in the middle stage of the disease; an observation that might support a previously suggested relation between the ataxin-2 gene and body weight. "
2.	Frontotemporal Dementia (Semantic Dementia) 10/28/2020 - "The results of immunohistochemical and biochemical analyses of brains from FTLD-TDP cases showed the colocalization of ATXN2 and phosphorylated TDP-43 in the dystrophic neurites and the neuronal cytoplasmic inclusions in the hippocampal region, and a significant reduction of ATXN2 protein compared to controls. " 01/01/2012 - "Recently, critical RNA-binding proteins that are directly associated with the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U) have also been identified, including TAR DNA-binding protein (TDP-43), fused in sarcoma/translated in liposarcoma (FUS) protein and ataxin-2. "
3.	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 06/01/2023 - "TR-FRET-Based Immunoassay to Measure Ataxin-2 as a Target Engagement Marker in Spinocerebellar Ataxia Type 2." 10/07/2022 - "Mutant Ataxin-2 Expression in Aged Animals Aggravates Neuropathological Features Associated with Spinocerebellar Ataxia Type 2." 04/01/2020 - "Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells." 01/01/2017 - "However, in mammals the function of Ataxin-2 is unknown despite its involvement in the inherited neurogenerative disease Spinocerebellar Ataxia type 2 in humans. " 01/01/2013 - "Pathogenic CAG repeat expansion in the ataxin-2 gene (ATXN2) is the genetic cause of spinocerebellar ataxia type 2 (SCA2). "
4.	Insulin Resistance 01/01/2023 - "Thus, ataxin-2 in the hypothalamus is a determinant for weight, insulin sensitivity and clock gene expression. " 01/01/2023 - "Specific hypothalamic ataxin-2 overexpression prevents HFD-induced obesity and insulin resistance. " 01/01/2017 - "Emerging studies discussed here now show that ataxin-2 deficiency correlates with insulin resistance and dyslipidemia, an action mediated via the mTOR pathway, suggesting that ataxin-2 might play key roles in metabolic homeostasis including body weight regulation, insulin sensitivity, and cellular stress responses. " 11/21/2019 - "Ataxin-2 knockout mice exhibit progressive obesity, dyslipidemia, and insulin resistance. " 01/01/2016 - "Human Ataxin-2 (ATXN2) gene locus variants have been associated with obesity, diabetes mellitus type 1,and hypertension in genome-wide association studies, whereas mouse studies showed the knock-out of Atxn2 to lead to obesity, insulin resistance, and dyslipidemia. "
5.	Dyslipidemias (Dyslipidemia) 01/01/2017 - "Emerging studies discussed here now show that ataxin-2 deficiency correlates with insulin resistance and dyslipidemia, an action mediated via the mTOR pathway, suggesting that ataxin-2 might play key roles in metabolic homeostasis including body weight regulation, insulin sensitivity, and cellular stress responses. " 11/21/2019 - "Ataxin-2 knockout mice exhibit progressive obesity, dyslipidemia, and insulin resistance. " 01/01/2016 - "Human Ataxin-2 (ATXN2) gene locus variants have been associated with obesity, diabetes mellitus type 1,and hypertension in genome-wide association studies, whereas mouse studies showed the knock-out of Atxn2 to lead to obesity, insulin resistance, and dyslipidemia. "

Related Drugs and Biologics

1.	polyglutamine
2.	Proteins (Proteins, Gene)
3.	RNA-Binding Proteins (RNA-Binding Protein)
4.	Ataxin-3
5.	TATA-Box Binding Protein (TATA-Binding Protein)
6.	Arginine (L-Arginine)
7.	tributyl phosphate (TBP)
8.	RNA (Ribonucleic Acid)
9.	Ataxin-2
10.	Carrier Proteins (Binding Protein)

Related Therapies and Procedures

1.	Therapeutics