Ataxin-3

A deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).

Also Known As:

Networked: 330 relevant articles (5 outcomes, 26 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Riess, Olaf: 19 articles (07/2022 - 07/2007)
2.	Paulson, Henry L: 19 articles (02/2021 - 01/2004)
3.	Pereira de Almeida, Luís: 17 articles (01/2022 - 10/2008)
4.	Tortora, Paolo: 16 articles (01/2021 - 12/2003)
5.	Schmidt, Thorsten: 14 articles (07/2022 - 07/2007)
6.	Todi, Sokol V: 14 articles (12/2021 - 10/2007)
7.	Pastore, Annalisa: 14 articles (01/2021 - 08/2003)
8.	Hübener-Schmid, Jeannette: 12 articles (07/2022 - 05/2017)
9.	Nóbrega, Clévio: 12 articles (01/2022 - 06/2010)
10.	Evert, Bernd O: 11 articles (01/2019 - 02/2003)

Related Diseases

1.	Ataxia (Dyssynergia) 06/01/2005 - "Our results indicated that LTG may have significant benefits in relief of gait disturbance in MJD patients with early ataxia, and may be related to the decreased expression of mutant ataxin-3." 01/01/2016 - "In fact, the fibrillogenesis of Ataxin 3, responsible for the spinocerebbellar ataxia 3, is strictly related to the JD thermodynamic stability. " 10/01/2015 - "Furthermore, overexpression of NPY alleviated the motor coordination impairments and attenuated the related neuropathological parameters, preserving cerebellar volume and granular layer thickness, reducing striatal lesion and decreasing mutant ataxin-3 aggregation. " 08/01/2013 - "Overexpression of mutant ataxin-3 in mouse cerebellum induces ataxia and cerebellar neuropathology." 01/01/2022 - "Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most common autosomal dominantly-inherited ataxia worldwide and is characterised by the accumulation of mutant ataxin-3 (mutATXN3) in different brain regions, leading to neurodegeneration. "
2.	Machado-Joseph Disease (Spinocerebellar Ataxia Type 3) 01/01/2022 - "The Ratio of Expanded to Normal Ataxin 3 in Peripheral Blood Mononuclear Cells Correlates with the Age at Onset in Spinocerebellar Ataxia Type 3." 12/01/2021 - "Targeting the VCP-binding motif of ataxin-3 improves phenotypes in Drosophila models of Spinocerebellar Ataxia Type 3." 01/01/2020 - "The Machado-Joseph disease deubiquitylase ataxin-3 interacts with LC3C/GABARAP and promotes autophagy." 01/01/2019 - "Nuclear localization of ataxin-3 plays a fundamental role in seeding aggregation and the pathology of spinocerebellar ataxia type 3 (SCA3). " 12/01/2018 - "The Machado-Joseph disease-associated expanded form of ataxin-3: Overexpression, purification, and preliminary biophysical and structural characterization."
3.	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/01/2012 - "Among these, ataxin-3 (AT3) is the causative agent of spinocerebellar ataxia type-3. " 01/01/2008 - "The most frequent subtype of autosomal dominant inherited spinocerebellar ataxias is caused by CAG repeat expansions of more than 55 units in the ataxin-3 gene. " 08/01/2014 - "Spinocerebellar ataxia type 3 (SCA3) is an inherited spinocerebellar ataxia caused by the expansion of trinucleotide CAG repeats in the gene encoding ataxin-3. " 01/01/2011 - "Machado-Joseph disease, or spinocerebellar ataxia type 3(MJD/SCA3), is the most frequent late onset spinocerebellar ataxia and results from a CAG repeat expansion in the ataxin-3 gene. " 02/01/2010 - "A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene."
4.	Neurodegenerative Diseases (Neurodegenerative Disease) 01/01/2016 - "Overall, our results provide a well-characterized MJD fibroblast resource for neurodegenerative disease research and contribute for the understanding of mutant ataxin-3 biology and its molecular consequences." 01/01/2023 - "Machado-Joseph disease (MJD) is a dominant neurodegenerative disease caused by an expanded CAG repeat in the ATXN3 gene encoding the ataxin-3 protein. " 01/01/2022 - "Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder characterized by loss of neuronal matter due to the expansion of the CAG repeat in the ATXN3/MJD1 gene and subsequent ataxin-3 protein. " 11/01/2021 - "Spinocerebellar ataxia type 3 is a rare neurodegenerative disease caused by a CAG repeat expansion in the ataxin-3 gene. " 06/01/2021 - "Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). "
5.	Disease Progression 01/01/2013 - "In studies crossing mice null for ataxin-3 to an established HD knock-in mouse model (HdhQ200), we tested whether loss of ataxin-3 alters disease progression, perhaps by impairing the clearance of mutant htt or the ubiquitination of inclusions. " 06/01/2013 - "Recruitment of CA11 into nuclear inclusions containing mutant ataxin-3 revealed a possible correlation between CA11 and disease progression. " 01/01/2013 - "A quantitative method to analyze soluble levels will be a useful tool to characterize disease progression or to screen and identify therapeutic compounds modulating the level of toxic soluble ataxin-3. " 12/15/2009 - "This genetic in vivo confirmation of the pathological role of Ataxin-3 cleavage indicates that therapies targeting Ataxin-3 cleavage might slow disease progression in SCA3 patients." 01/01/2013 - "Consistent with observations in Huntington disease, transgenic SCA3 mice reveal a tendency for decrease of soluble mutant ataxin-3 during disease progression in fractions of the cerebellum, which is inversely correlated with aggregate formation and phenotypic aggravation. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	polyglutamine
3.	Ataxin-1
4.	Lithium
5.	Ubiquitin
6.	Deubiquitinating Enzymes
7.	TATA-Box Binding Protein (TATA-Binding Protein)
8.	Orexins
9.	Proteasome Endopeptidase Complex (Proteasome)
10.	Ataxin-2

Related Therapies and Procedures

1.	Therapeutics
2.	Transplantation
3.	Lasers (Laser)