The Molecular Basis of Spinocerebellar Ataxia Type 7

被引：15

作者：

Goswami, Rituparna ^{[1
]}

Bello, Abudu I. ^{[1
]}

Bean, Joe ^{[1
]}

Costanzo, Kara M. ^{[1
]}

Omer, Bwaar ^{[1
]}

Cornelio-Parra, Dayanne ^{[1
]}

Odah, Revan ^{[1
]}

Ahluwalia, Amit ^{[1
]}

Allan, Shefaa K. ^{[1
]}

Nguyen, Nghi ^{[1
]}

Shores, Taylor ^{[1
]}

Aziz, N. Ahmad ^{[2
]}

Mohan, Ryan D. ^{[1
]}

机构：

[1] Univ Missouri Kansas City, Sch Sci & Engn, Div Biol & Biomed Syst, Kansas City, MO USA

[2] German Ctr Neurodegenerat Dis DZNE, Populat Hlth Sci, Bonn, Germany

来源：

FRONTIERS IN NEUROSCIENCE | 2022年 / 16卷

基金：

美国国家卫生研究院;

关键词：

ATXN7; USP22; SAGA complex; polyglutamine expansion; deubiquitination; DOMINANT CEREBELLAR-ATAXIA; RETINAL DEGENERATION; MUTANT ATAXIN-7; NEURODEGENERATIVE DISORDER; HUNTINGTONS-DISEASE; REPEAT INSTABILITY; CELLULAR TOXICITY; SCA7; PATIENTS; SAGA; GENE;

D O I：

10.3389/fnins.2022.818757

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Spinocerebellar ataxia (SCA) type 7 (SCA7) is caused by a CAG trinucleotide repeat expansion in the ataxin 7 (ATXN7) gene, which results in polyglutamine expansion at the amino terminus of the ATXN7 protein. Although ATXN7 is expressed widely, the best characterized symptoms of SCA7 are remarkably tissue specific, including blindness and degeneration of the brain and spinal cord. While it is well established that ATXN7 functions as a subunit of the Spt Ada Gcn5 acetyltransferase (SAGA) chromatin modifying complex, the mechanisms underlying SCA7 remain elusive. Here, we review the symptoms of SCA7 and examine functions of ATXN7 that may provide further insights into its pathogenesis. We also examine phenotypes associated with polyglutamine expanded ATXN7 that are not considered symptoms of SCA7.

引用

页数：15

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