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Association between Parkinson`s disease and glucocerebrosidase mutations in Brazil
(ELSEVIER SCI LTD, 2008)
Objective: To evaluate the association between parkinsonism and mutations in the glucocerebrosidase gene (GBA) in Brazilian patients. Methods: We searched for three GBA common mutations (N370S, L444P and G377S) in 65 ...
Generation of Polyclonal Antibodies Against Recombinant Human Glucocerebrosidase Produced in Escherichia coli
(HUMANA PRESS INC, 2010)
Deficiency of the lysosomal glucocerebrosidase (GCR) enzyme results in Gaucher`s disease, the most common inherited storage disorder. Treatment consists of enzyme replacement therapy by the administration of recombinant ...
Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity
(2021)
The acid β-glucocerebrosidase (GCase) enzyme cleaves glucosylceramide into glucose and ceramide. Loss of function variants in the gene encoding for GCase can lead to Gaucher disease and Parkinson’s disease. Therapeutic ...
Lysosomal integral membrane protein 2 (LIMP-2) restricts the invasion of Trypanosoma cruzi extracellular amastigotes through the activity of the lysosomal enzyme beta-glucocerebrosidase
(Elsevier B.V., 2014-03-01)
Lysosomal integral membrane protein 2 (LDM1P-2, SCARB2) is directly linked to beta-glucocerebrosidase enzyme (beta GC) and mediates the transport of this enzyme from the Golgi complex to lysosomes. Active beta GC cleaves ...
Examining the impact of bone pathology on type I Gaucher disease
(Taylor & Francis, 2014)
Gaucher disease (GD) is an autosomal recessively inherited lysosomal disorder caused by mutations in GBA gene leading to deficient activity of the lysosomal enzyme acid β-glucocerebrosidase. Phenotipically, 3 different ...
Induction of osteoclastogenesis in an in vitro model of Gaucher disease is mediated by T cells via TNF-α
(Elsevier Science, 2012-11)
Gaucher disease is a lysosomal storage disorder caused by deficiency of glucocerebrosidase enzymatic activity leading to accumulation of its substrate glucocerebrosidase mainly in macrophages. Skeletal disorder of Gaucher ...
Generation of a Chinese Hamster Ovary Cell Line Producing Recombinant Human Glucocerebrosidase
(HINDAWI PUBLISHING CORPORATIONNEW YORK, 2012)
Impaired activity of the lysosomal enzyme glucocerebrosidase (GCR) results in the inherited metabolic disorder known as Gaucher disease. Current treatment consists of enzyme replacement therapy by administration of exogenous ...