Unknown,Transcriptomics,Genomics,Proteomics

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MiRNA profile of hunan cortex and cerebellum


ABSTRACT: Human cortex and cerebellum from young and old healthy subjects and SCA1 patients

ORGANISM(S): Homo sapiens

DISEASE(S): spinocerebellar ataxia type 1

SUBMITTER: Stephan Perseng 

PROVIDER: E-MTAB-852 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

Functional Annotation of Small Noncoding RNAs Target Genes Provides Evidence for a Deregulated Ubiquitin-Proteasome Pathway in Spinocerebellar Ataxia Type 1.

Persengiev Stephan S   Kondova Ivanela I   Bontrop Ronald E RE  

Journal of nucleic acids 20121003


Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by the expansion of CAG repeats in the ataxin 1 (ATXN1) gene. In affected cerebellar neurons of patients, mutant ATXN1 accumulates in ubiquitin-positive nuclear inclusions, indicating that protein misfolding is involved in SCA1 pathogenesis. In this study, we functionally annotated the target genes of the small noncoding RNAs (ncRNAs) that were selectively activated in the affected brain compartments. The primary targets  ...[more]

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