Article
Mitochondrial defect and PGC-1α dysfunction in parkin-associated familial Parkinson's disease.
Biochimica et biophysica acta - 1 Aug 2011
Pacelli Consiglia, De Rasmo Domenico, Signorile Anna, Grattagliano Ignazio, di Tullio Giuseppe, D'Orazio Andria, Nico Beatrice, Comi Giacomo Pietro, Ronchi Dario, Ferranini Ermanno, Pirolo Domenico, Seibel Peter, Schubert Susanna, Gaballo Antonio, Villani Gaetano, Cocco Tiziana
Abstract excerpt
Mutations in the parkin gene are expected to play an essential role in autosomal recessive Parkinson's disease. Recent studies have established an impact of parkin mutations on mitochondrial function and autophagy. In primary skin fibroblasts from two patients affected by an early onset Parkinson's disease, we identified a hitherto unreported compound heterozygous mutation del exon2-3/del exon3 in the parkin...
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