Results 1 to 10 of about 7,167 (179)

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency [PDF]

Brain Sciences, 2019
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped
Emilia Gatto, Guillermo Drelichman, JOSÉ Luis Etcheverry   +2 more
exaly   +5 more sources

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

Glucocerebrosidase: Functions in and Beyond the Lysosome [PDF]

Journal of Clinical Medicine, 2020
Glucocerebrosidase (GCase) is a retaining β-glucosidase with acid pH optimum metabolizing the glycosphingolipid glucosylceramide (GlcCer) to ceramide and glucose. Inherited deficiency of GCase causes the lysosomal storage disorder named Gaucher disease (GD). In GCase-deficient GD patients the accumulation of GlcCer in lysosomes of tissue macrophages is
Johannes Aerts, Johannes Aerts, Jeroen Van Smeden   +2 more
exaly   +3 more sources

Glucocerebrosidase is shaking up the synucleinopathies [PDF]

Brain, 2014
The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively
Ellen Sidransky, Marina Siebert, Wendy Westbroek   +2 more
exaly   +3 more sources

Glucocerebrosidase mutations in subjects with parkinsonism [PDF]

Molecular Genetics and Metabolism, 2004
Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease.
Ellen Sidransky, Özlem Goker-Alpan, Mary E Lamarca   +2 more
exaly   +3 more sources

Isofagomine Induced Stabilization of Glucocerebrosidase [PDF]

ChemBioChem, 2008
AbstractStructurally destabilizing mutations in acid β‐glucosidase (GCase) can result in Gaucher disease (GD). The iminosugar isofagomine (IFG), a competitive inhibitor and a potential pharmacological chaperone of GCase, is currently undergoing clinical evaluation for the treatment of GD.
Don J Mahuran
exaly   +3 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
doaj   +2 more sources

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease [PDF]

Annals of Medicine, 2013
Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. An association between PD and Gaucher disease (GD) derived from the observation that GD patients and their heterozygous carrier relatives were at increased risk of PD.

exaly   +3 more sources

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

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
doaj   +1 more source

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
doaj   +1 more source