A greatly extended PPARGC1A genomic locus encodes several new brain-specific isoforms and influences Huntington disease age of onset.

Soyal, Selma M; Felder, Thomas K; Auer, Simon; Hahne, Penelope; Oberkofler, Hannes; Witting, Anke; Paulmichl, Markus; Landwehrmeyer, G Bernhard; Weydt, Patrick; Patsch, Wolfgang

Soyal, Selma M; Felder, Thomas K; Auer, Simon; Hahne, Penelope; Oberkofler, Hannes; Witting, Anke; Paulmichl, Markus; Landwehrmeyer, G Bernhard; Weydt, Patrick; Patsch, Wolfgang.

Affiliation

Soyal SM; Department of Laboratory Medicine, Paracelsus Medical University, Strubergasse 21, 5020 Salzburg, Austria.

Hum Mol Genet ; 21(15): 3461-73, 2012 Aug 01.

Article in En | MEDLINE | ID: mdl-22589246

Subject(s)

Brain/metabolism; Genome, Human; Heat-Shock Proteins/genetics; Huntington Disease/epidemiology; Huntington Disease/genetics; Transcription Factors/genetics; Age of Onset; Exons; Genomics; Heat-Shock Proteins/metabolism; Humans; Introns; Molecular Sequence Data; Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; Protein Isoforms/genetics; Protein Isoforms/metabolism; Transcription Factors/metabolism

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Full text: 1 Database: MEDLINE Main subject: Transcription Factors / Brain / Genome, Human / Huntington Disease / Heat-Shock Proteins Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2012 Type: Article Affiliation country: Austria

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