Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency
نویسندگان
چکیده
منابع مشابه
Mitochondrial dysfunction associated with glucocerebrosidase deficiency
The lysosomal hydrolase glucocerebrosidase (GCase) is encoded for by the GBA gene. Homozygous GBA mutations cause Gaucher disease (GD), a lysosomal storage disorder. Furthermore, homozygous and heterozygous GBA mutations are numerically the greatest genetic risk factor for developing Parkinson's disease (PD), the second most common neurodegenerative disorder. The loss of GCase activity results ...
متن کاملGlucocerebrosidase deficiency and mitochondrial impairment in experimental Parkinson disease.
Gaucher disease is an autosomal recessive disease, caused by a lack or functional deficiency of the lysosomal enzyme, glucocerebrosidase (GCase). Recently, mutations in the glucocerebrosidase gene (GBA) have been associated with Parkinson's disease (PD) and GBA mutations are now considered the most important genetic vulnerability factor for PD. In this study, we have investigated (i) in vivo wh...
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 کاملGlucocerebrosidase 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 activity was measured using a fluorescent assay in cerebellum, frontal cortex, putamen, amygdala, ...
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Punica granatum (Pg), commonly known as pomegranate (Pg), is a member of the monogeneric family, Punicaceae, and is mainly found in Iran which is considered to be its primary centre of origin. Pg and its chemical components possess various pharmacological and toxicological properties including antioxidant, anti-inflammatory (by inhibiting pro-inflammatory cytokines), anti-cancer and anti-angiog...
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ژورنال
عنوان ژورنال: Brain Sciences
سال: 2019
ISSN: 2076-3425
DOI: 10.3390/brainsci9020030