Mitochondrial dysfunction associated with 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 کاملGlucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage
Mutations of the gene for glucocerebrosidase 1 (GBA) cause Gaucher disease (GD), an autosomal recessive lysosomal storage disorder. Individuals with homozygous or heterozygous (carrier) mutations of GBA have a significantly increased risk for the development of Parkinson's disease (PD), with clinical and pathological features that mirror the sporadic disease. The mechanisms whereby GBA mutation...
متن کاملParkinsonism Associated with Glucocerebrosidase Mutation
BACKGROUND Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations. CASE REPORT A 44-year-old woman suffering f...
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WITH CEREBRAL FOLATE DEFICIENCY Cerebral folate deficiency (CFD) has been defined as any neuropsychiatric condition associated with isolated lowering of 5-methyltetrahydrofolate (5MTHF) levels in CSF and normal systemic folate metabolism.1 CFD has been detected in the infantile-onset CFD syndrome (mediated by serum folate receptor [FR] autoantibodies of the blocking type1) and Aicardi-Goutières...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2016
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2015.09.006