Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

Objective: Mutations in the glucocerebrosidase gene (GBA) represent a significant risk factor for developing Parkinson disease (PD). We investigated the enzymatic activity of glucocerebrosidase (GCase) in PD brains carrying heterozygote GBA mutations (PD+GBA) and sporadic PD brains. Methods: GCase a...

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Veröffentlicht in:	Annals of neurology 2012-09, Vol.72 (3), p.455-463
Hauptverfasser:	Gegg, Matthew E., Burke, Derek, Heales, Simon J. R., Cooper, J. Mark, Hardy, John, Wood, Nicholas W., Schapira, Anthony H. V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Aged, 80 and over alpha-Synuclein - metabolism Biological and medical sciences Cell Line, Tumor Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Gaucher Disease - complications Gaucher Disease - genetics Gaucher Disease - pathology Gene Expression Regulation, Enzymologic - genetics Glucosylceramidase - genetics Glucosylceramidase - metabolism Heterozygote Humans Immunoprecipitation Kinases Male Medical sciences Middle Aged Mitochondria - enzymology Mutation Neuroblastoma Neurology Original Parkinson Disease - complications Parkinson Disease - pathology Parkinson's disease Protein expression Protein Kinases - deficiency Proteins RNA, Small Interfering - genetics RNA, Small Interfering - metabolism Substantia Nigra - enzymology Substantia Nigra - pathology
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