The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we...

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Veröffentlicht in:	PloS one 2013-07, Vol.8 (7), p.e68951-e68951
Hauptverfasser:	Metzger, Silke, Walter, Carolin, Riess, Olaf, Roos, Raymund A C, Nielsen, Jørgen E, Craufurd, David, Nguyen, Huu Phuc
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Age of Onset Aged Autophagy Autophagy - genetics Autophagy-Related Protein 7 Biology Brain-derived neurotrophic factor Child Child, Preschool Cohort Studies Development and progression Gene Frequency Gene polymorphism Genes Genetic aspects Genetic factors Genetic polymorphisms Genetics Genomes Genomics Genotype High definition television Humanities and Social Sciences Humans Huntingtin Huntington Disease - epidemiology Huntington Disease - genetics Huntington Disease - pathology Huntington's disease Huntingtons disease Influence Italy - epidemiology Medicine Middle Aged Pathogenesis Patients Phagocytosis Polyglutamine diseases Polymorphism Polymorphism, Single Nucleotide Population Proteins Studies Trinucleotide repeat diseases Ubiquitin-Activating Enzymes - genetics Young Adult
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