Results 11 to 20 of about 7,167 (179)
Glucocerebrosidase mutations and Parkinson disease
Journal of Neural Transmission, 2022 AbstractThe discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within the research landscape. Efforts to elucidate the mechanisms behind GBA1-associated PD have highlighted shared pathways in idiopathic PD including the loss and gain ...
Vieira, Sophia R. L. +1 more
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Journal of Applied Hematology, 2021 Gaucher disease (GD) is a lysosomal storage disorder that occurs due to an inherited inborn error of metabolism. GD manifested due to the deficient activity of the glucocerebrosidase enzyme that results in the accumulation of the harmful ...
Tarek Owaidah +10 more
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Did α-Synuclein and Glucocerebrosidase Coevolve? Implications for Parkinson's Disease. [PDF]
PLoS ONE, 2015 Mutations in the GBA1 gene are associated with increased risk of Parkinson's disease, and the protein produced by the gene, glucocerebrosidase, interacts with α-synuclein, the protein at the center of the disease etiology.
James M Gruschus
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Gaucher Disease Type 1, A Rare Disease: A Single Center-Experience
Journal of Contemporary Medicine, 2021 Aim: Gaucher disease is a rare lysosomal storage disease. Enzyme replacement therapy has proven to be very effective in reversing the risk of hepato-splenomegaly, cytopenia, osteopenia and reducing the risk of avasculer osteo necrosis, especially in ...
Ayşe Selimoğlu +3 more
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Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease
Frontiers in Cell and Developmental Biology, 2020 Parkinson disease, the second most common movement disorder, is a complex neurodegenerative disorder hallmarked by the accumulation of alpha-synuclein, a neural-specific small protein associated with neuronal synapses. Mutations in the glucocerebrosidase
Tae-Un Han, Richard Sam, Ellen Sidransky
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Reexamination of the cysteine residues in glucocerebrosidase [PDF]
FEBS Letters, 2006 Glucocerebrosidase, the deficient enzyme in Gaucher disease, catalyzes the cleavage of the β‐glycosidic linkage of glucosylceramide. A previous study on the enzyme identified three disulfide bridges and a single sulfhydryl [Lee, Y., Kinoshita, H., Radke, G., Weiler, S., Barranger, J.A. and Tomich, J.M.
Moharram, Ramy +5 more
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Glucocerebrosidase and its relevance to Parkinson disease
Molecular Neurodegeneration, 2019 Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies.
Jenny Do +3 more
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Parkinsonism Associated with Glucocerebrosidase Mutation [PDF]
Journal of Clinical Neurology, 2011 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).
Sunwoo, Mun-Kyung +3 more
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Gaucher disease: achievements and prospects
Терапевтический архив, 2021 Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids.
Rodion V. Ponomarev, Elena A. Lukina
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Neurobiology of Disease, 2019 Synucleinopathies including Parkinson's disease (PD) and Dementia with Lewy bodies (DLB) are characterized by the accumulation of abnormal α-synuclein in intraneuronal inclusions, named Lewy bodies.
Anna Lisa Gündner +8 more
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