SCA7 Mouse Cerebellar Pathology Reveals Preferential Downregulation of Key Purkinje Cell-Identity Genes and Shared Disease Signature with SCA1 and SCA2.
Purkinje cells
SCA7
cell type-specific gene deregulation
cerebellum
polyglutamine expansion
retinopathy
Journal
The Journal of neuroscience : the official journal of the Society for Neuroscience
ISSN: 1529-2401
Titre abrégé: J Neurosci
Pays: United States
ID NLM: 8102140
Informations de publication
Date de publication:
02 06 2021
02 06 2021
Historique:
received:
15
07
2020
revised:
03
03
2021
accepted:
05
03
2021
pubmed:
24
4
2021
medline:
20
11
2021
entrez:
23
4
2021
Statut:
ppublish
Résumé
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease mainly characterized by motor incoordination because of progressive cerebellar degeneration. SCA7 is caused by polyglutamine expansion in ATXN7, a subunit of the transcriptional coactivator SAGA, which harbors histone modification activities. Polyglutamine expansions in specific proteins are also responsible for SCA1-SCA3, SCA6, and SCA17; however, the converging and diverging pathomechanisms remain poorly understood. Using a new SCA7 knock-in mouse, SCA7
Identifiants
pubmed: 33888607
pii: JNEUROSCI.1882-20.2021
doi: 10.1523/JNEUROSCI.1882-20.2021
pmc: PMC8260160
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
4910-4936Informations de copyright
Copyright © 2021 the authors.
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