Glucocerebrosidase enzyme activity in GBA mutation Parkinson’s disease
نویسندگان
چکیده
منابع مشابه
Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations.
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease in GBA carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (n = 517) and controls (n = 252) with a...
متن کاملGlucocerebrosidase pseudogene variation and Gaucher disease: Recognizing pseudogene tracts in GBA alleles.
We surveyed the genetic variability of the glucocerebrosidase pseudogene (psGBA) in a worldwide sample of 100 human chromosomes. psGBA is the non-functional duplicate of the gene responsible for Gaucher disease (GBA), the most common lipid storage disorder. The existence of only one psGBA allele described until now, together with the high homology between GBA and psGBA, often prevented recognit...
متن کاملMolecular Cloning and Mutagenesis of Rat Glucocerebrosidase Gene
Purpose: The aim of this study was cloning the Gba enzyme in pUCBM21 plasmid, and making frame mutation on it and sequencing it. Materials and methods: mRNA was extracted from mouse spleen and glucocerebrosidase cDNA was synthesized and amplified by PCR with specific primers. cDNA was cloned in pUCBM21 and analyzed by restriction enzymes. A fragment of its sequence was deleted using MscI restr...
متن کاملDermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with
Recently, the development of Parkinson’s disease (PD) has Background: been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. We investigated PD and Gaucher Disease (GD) patient derived skin Methods: fibroblasts using biochemistry assays. PD patient derived skin fibroblasts have normal glucocerebrosidase Results: (GCase) activity, whilst ...
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Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase). The mechanism of this association is thought to involve an abnormal lysosomal system and we therefore sought to evaluate if lysosomal changes contribute to the pathogenesis of idiopathic LBD. Analysis of post-mortem frontal cortex tissue from 7 GBA mutation carriers with LBD, 5 GB...
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ژورنال
عنوان ژورنال: Journal of Clinical Neuroscience
سال: 2016
ISSN: 0967-5868
DOI: 10.1016/j.jocn.2015.12.004