Results 1 to 10 of about 9,202 (225)

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
doaj   +2 more sources

β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration [PDF]

Cells, 2022
β-glucocerebrosidase is a lysosomal hydrolase involved in the catabolism of the sphingolipid glucosylceramide. Biallelic loss of function mutations in this enzyme are responsible for the onset of Gaucher disease, while monoallelic β-glucocerebrosidase ...
Giulia Lunghi, Emma Veronica Carsana, Nicoletta Loberto, Laura Cioccarelli, Simona Prioni, Laura Mauri, Rosaria Bassi, Stefano Duga, Letizia Straniero, Rosanna Asselta, Giulia Soldà, Alessio Di Fonzo, Emanuele Frattini, Manuela Magni, Nara Liessi, Andrea Armirotti, Elena Ferrari, Maura Samarani, Massimo Aureli   +18 more
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Structure-Based Identification of Allosteric Glucocerebrosidase Stabilizers from Xylia xylocarpa (Roxb.) Taub. for Parkinson’s Disease Using LC-MS Profiling and Computational Analysis [PDF]

Plants
Parkinson’s disease is strongly linked to lysosomal dysfunction, particularly reduced activity of glucocerebrosidase (GCase) encoded by the GBA1 gene. Stabilizing GCase using small-molecule modulators represents a promising therapeutic strategy.
Irshad Ahammed Ebrahim Thaivalappil, Aswin Mohan, Anuroopa G. Nadh, Rajesh Raju, Mohammed Gulzar Ahmed   +4 more
doaj   +2 more sources

Effects of glucocerebrosidase gene variations on the risk of Parkinson’s disease dementia: a meta-analysis [PDF]

Frontiers in Aging Neuroscience
ObjectiveThis meta-analysis aimed to investigate the effects of glucocerebrosidase gene (GBA) variations on the risk of Parkinson’s disease dementia (PDD) and to identify the relationship between GBA variations and PDD.MethodA comprehensive search was ...
Qiujie Li, Zhumei Bi, Weiming Liang, Shan Yin, Huaicheng Li, Zhongyou Liang, Minyao Wu, Jieru Quan, Cheng Li   +8 more
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Glucocerebrosidase and its relevance to Parkinson disease [PDF]

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, Cindy McKinney, Pankaj Sharma, Ellen Sidransky   +3 more
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Glucocerebrosidase Activity is Reduced in Cryopreserved Parkinson’s Disease Patient Monocytes and Inversely Correlates with Motor Severity

Journal of Parkinson’s Disease, 2021
Background: Reduced activity of lysosomal glucocerebrosidase is found in brain tissue from Parkinson’s disease patients. Glucocerebrosidase is also highly expressed in peripheral blood monocytes where its activity is decreased in Parkinson’s disease ...
Laura P. Hughes, Marilia M.M. Pereira, Deborah A. Hammond, John B. Kwok, Glenda M. Halliday, Simon J.G. Lewis, Nicolas Dzamko   +6 more
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Diagnosis and management of hematological manifestations of gaucher disease: Insights from Saudi Arabia

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, Fahad Alabbas, Iman Alhazmi, Hussain Al Saeed, Saud Balelah, Ghaleb ElYamany, Ohoud Kashari, Mohamad Qari, Mahasen Saleh, Sherif Roushdy, Marwan ElBagoury   +10 more
doaj   +1 more source

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, Bengü Macit, Fatma İlknur Varol, Şükrü Güngör   +3 more
doaj   +1 more source

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
doaj   +1 more source

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
doaj   +1 more source