Expansion of a polyglutamine tract within the human atrophin-1 co-repressor is responsible for the DRPLA disease

M. Fanto; B. Charroux

doi:10.1016/B978-0-12-809324-5.00490-9

Expansion of a polyglutamine tract within the human atrophin-1 co-repressor is responsible for the DRPLA disease

M. Fanto, B. Charroux

Basic and Clinical Neuroscience

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

Dentatorubral-pallidoluysian atrophy is a polyglutamine disorder caused by expansion of a CAG repeat tract within the human atrophin 1 gene. Truncated fragments of polyQ Atrophin one accumulate in neuronal nuclei of DRPLA patients and represent the toxic form. The normal Atrophin 1 protein is conserved from Drosophila to mammals where it acts as transcriptional co-repressor.

Original language	English
Title of host publication	The Curated Reference Collection in Neuroscience and Biobehavioral Psychology
Publisher	Elsevier Science Ltd
Pages	100-103
Number of pages	4
ISBN (Electronic)	9780128093245
DOIs	https://doi.org/10.1016/B978-0-12-809324-5.00490-9
Publication status	Published - 1 Jan 2016

Keywords

Atrophin-1
CAG expansion
Co-repressor
DRPLA
MTA-2
Neurodegeneration
Nuclear aggregates
NURD
Polyglutamine
Trinucleotide repeat

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10.1016/B978-0-12-809324-5.00490-9

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KW - CAG expansion

KW - Co-repressor

KW - DRPLA

KW - MTA-2

KW - Neurodegeneration

KW - Nuclear aggregates

KW - NURD

KW - Polyglutamine

KW - Trinucleotide repeat

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BT - The Curated Reference Collection in Neuroscience and Biobehavioral Psychology

PB - Elsevier Science Ltd

ER -

Expansion of a polyglutamine tract within the human atrophin-1 co-repressor is responsible for the DRPLA disease

Abstract

Keywords

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