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Article

Age at onset in Huntington's disease is modified by the autophagy pathway: implication of the V471A polymorphism in Atg7.

Human genetics - 1 Oct 2010

Metzger Silke, Saukko Meiju, Van Che Hong, Tong Liang, Puder Yvonne, Riess Olaf, Nguyen Huu Phuc

Abstract excerpt

Huntington's disease (HD) is caused by an expansion of a polyglutamine repeat of more than 35 units in the huntingtin protein. The expanded repeat length is inversely correlated with the age at onset (AAO); however, additional genetic factors apart from the expanded CAG repeat length can modify the course and the AAO in HD. Aberrations in macroautophagy have been observed in Huntington, Alzheimer, Parkinson,...

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Identifiers

PMID: 20697744
DOI: 10.1007/s00439-010-0873-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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