Ataxin-7

A component of the STAGA transcription coactivator-HAT complex that functions in Cone Rod Homeobox Protein (CRX)-dependent gene activation. It also stabilizes MICROTUBULES. CAG repeat expansion in the ATXN-7 coding region is associated with the development of SPINOCEREBELLAR ATAXIA 7.

Also Known As:

ATXN7 Protein; Atxn-7 Protein; SCA7 Protein; Spinocerebellar Ataxia 7 Protein; Ataxin 7; Atxn 7 Protein; Protein, ATXN7; Protein, Atxn-7; Protein, SCA7

Networked: 78 relevant articles (4 outcomes, 2 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Nuclear Proteins: 2678
    - Ataxins: 30
      - Ataxin-7: 78
        human ATXN7 protein
        human ATXN7L1 protein
        mouse Atxn7 protein
        mouse SCA7b protein
        rat Atxn7 protein
  - Nerve Tissue Proteins: 2
    - Ataxins: 30
      - Ataxin-7: 78
        human ATXN7 protein
        human ATXN7L1 protein
        mouse Atxn7 protein
        mouse SCA7b protein
        rat Atxn7 protein

Experts

1.	La Spada, Albert R: 19 articles (01/2021 - 06/2002)
2.	Sopher, Bryce L: 10 articles (01/2019 - 06/2002)
3.	Brice, Alexis: 8 articles (11/2019 - 06/2002)
4.	Ellerby, Lisa M: 5 articles (07/2015 - 02/2006)
5.	Stevanin, Giovanni: 5 articles (11/2014 - 06/2002)
6.	Mohan, Ryan D: 4 articles (01/2022 - 01/2014)
7.	Sittler, Annie: 4 articles (11/2019 - 01/2010)
8.	Guyenet, Stephan J: 4 articles (07/2015 - 10/2006)
9.	Grant, Patrick A: 4 articles (11/2013 - 06/2005)
10.	Garden, Gwenn A: 4 articles (03/2013 - 06/2002)

Related Diseases

1.	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 04/14/2022 - "Our work provides important insight into the cellular biology of ataxin-7 and top1mt and offers insight into the pathogenesis of spinocerebellar ataxia applicable to multiple subtypes of the illness. " 01/01/2021 - "The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutation that results in the degeneration of the brain stem cells, retina and cerebellum. " 01/01/2014 - "Spinocerebellar ataxia 7 (SCA7) is an incurable disease caused by expansion of CAG trinucleotide sequences within the Ataxin-7 gene. " 06/01/2012 - "Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder associated with cerebellar neurodegeneration caused by expansion of a CAG repeat in the ataxin-7 gene. " 09/01/2004 - "Here, we describe an infant with 180 CAG repeats in the spinocerebellar ataxia type 7 gene and focus on systemic ataxin-7 aggregation. "
2.	Neurodegenerative Diseases (Neurodegenerative Disease) 01/01/2021 - "Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the coding region of the ataxin-7 gene. " 11/01/2019 - "A hallmark of the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7) is the intranuclear accumulation of mutant, misfolded ataxin-7 (polyQ-ATXN7). " 07/24/2014 - "Given that ataxin-7, the human Sgf73 ortholog, causes the neurodegenerative disease spinocerebellar ataxia type 7, our findings indicate that the genetic and epigenetic interactions between DUBm and SIR2 will be relevant to neurodegeneration and aging. " 10/27/2013 - "This study implicates HDAC3 and ataxin-7 interaction as a target for therapeutic intervention in SCA7, adding to a growing list of neurodegenerative diseases that may be treated by HDAC inhibitors. " 12/01/2023 - "Moreover, SAGA is also recently found to be regulated by the 26S proteasome in a proteolysis-dependent manner via the ubiquitylation of its Sgf73/ataxin-7 component that is required for SAGA's integrity and DUB activity (and hence transcription), and is linked to various diseases including neurodegenerative disorders and cancer. "
3.	Ataxia (Dyssynergia) 09/01/2014 - "We observed sustained reduction of both wildtype and mutant ataxin-7 as well as a significant improvement of ataxia phenotypes. " 10/01/2006 - "Bergmann glia-specific expression of mutant ataxin-7 was sufficient to produce ataxia and neurodegeneration. " 01/01/2016 - "In conclusion we found a fusion gene between DNA repair gene Rad51C and neuro-cerebral ataxia Ataxin-7 gene in colorectal tumors. " 11/15/2001 - "Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by ataxia and selective neuronal cell loss caused by the expansion of a translated CAG repeat encoding a polyglutamine tract in ataxin-7, the SCA7 gene product. "
4.	Retinal Diseases 10/31/2018 - "In SCA7 mice with retinal disease, intravitreal injection of Ataxin-7 ASOs also improved visual function despite initiating treatment after symptom onset. "
5.	Multiple Sclerosis 06/01/2013 - "We showed previously, in a cell model of spinocerebellar ataxia 7, that interferon beta induces the expression of PML protein and the formation of PML protein nuclear bodies that degrade mutant ataxin 7, suggesting that the cytokine, used to treat multiple sclerosis, might have therapeutic value in spinocerebellar ataxia 7. We now show that interferon beta also induces PML-dependent clearance of ataxin 7 in a preclinical model, SCA7(266Q/5Q) knock-in mice, and improves motor function. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	polyglutamine
3.	Interferon-beta
4.	Cytokines
5.	Nuclear Proteins (Protein, Nuclear)
6.	Histone Deacetylase Inhibitors
7.	Ataxin-7
8.	Histone Acetyltransferases (Histone Acetyltransferase)
9.	Mutant Proteins (Protein, Mutant)
10.	Staphylococcal Protein A (Protein A)

Related Therapies and Procedures

1.	Intravitreal Injections