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Titel:

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease

Dokumenttyp:
Zeitschriftenaufsatz
Autor(en):
Corrochano, Silvia; Blanco, Gonzalo; Williams, Debbie; Wettstein, Jessica; Simon, Michelle; Kumar, Saumya; Moir, Lee; Agnew, Thomas; Stewart, Michelle; Landman, Allison; Kotiadis, Vassilios N; Duchen, Michael R; Wackerhage, Henning; Rubinsztein, David C; Brown, Steve D M; Acevedo-Arozena, Abraham
Abstract:
Polyglutamine expansions in the huntingtin gene cause Huntington's disease (HD). Huntingtin is ubiquitously expressed, leading to pathological alterations also in peripheral organs. Variations in the length of the polyglutamine tract explain up to 70% of the age-at-onset variance, with the rest of the variance attributed to genetic and environmental modifiers. To identify novel disease modifiers, we performed an unbiased mutagenesis screen on an HD mouse model, identifying a mutation in the skel...     »
Stichworte:
Huntington's disease
Dewey Dezimalklassifikation:
570 Biowissenschaften, Biologie; 610 Medizin und Gesundheit; 790 Sport, Spiele, Unterhaltung
Zeitschriftentitel:
Human Molecular Genetics
Jahr:
2018
Band / Volume:
27
Jahr / Monat:
2018-03
Quartal:
1. Quartal
Monat:
Mar
Heft / Issue:
10
Seitenangaben Beitrag:
1723-1731
Reviewed:
ja
Sprache:
en
Volltext / DOI:
doi:10.1093/hmg/ddy077
WWW:
https://core.ac.uk/download/pdf/153570758.pdf
Verlag / Institution:
Oxford University Press (OUP)
E-ISSN:
0964-69061460-2083
Impact Factor:
4,9
Publikationsdatum:
02.03.2018
Semester:
SS 19
TUM Einrichtung:
Sportbiologie
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