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

King's College London
IBDML

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

Access to Document

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

Cite this

@inbook{19dfbed7b90943e38d0fa69b6e75ac76,

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

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.",

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

author = "M. Fanto and B. Charroux",

year = "2016",

month = jan,

day = "1",

doi = "10.1016/B978-0-12-809324-5.00490-9",

language = "English",

pages = "100--103",

booktitle = "The Curated Reference Collection in Neuroscience and Biobehavioral Psychology",

publisher = "Elsevier Science Ltd",

}

TY - CHAP

T1 - Expansion of a polyglutamine tract within the human atrophin-1 co-repressor is responsible for the DRPLA disease

AU - Fanto, M.

AU - Charroux, B.

PY - 2016/1/1

Y1 - 2016/1/1

N2 - 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.

AB - 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.

KW - Atrophin-1

KW - CAG expansion

KW - Co-repressor

KW - DRPLA

KW - MTA-2

KW - Neurodegeneration

KW - Nuclear aggregates

KW - NURD

KW - Polyglutamine

KW - Trinucleotide repeat

UR - https://www.scopus.com/pages/publications/85079564870

U2 - 10.1016/B978-0-12-809324-5.00490-9

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

M3 - Chapter

SP - 100

EP - 103

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

Access to Document

Other files and links

Fingerprint

Cite this