Results 31 to 40 of about 9,202 (225)

Glucocerebrosidase Defects as a Major Risk Factor for Parkinson’s Disease

Frontiers in Aging Neuroscience, 2020
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), occur in a considerable percentage of all patients with sporadic Parkinson’s disease (PD), varying between 8% and 12% across the world.
Micol Avenali, Micol Avenali, Fabio Blandini, Fabio Blandini, Silvia Cerri   +4 more
doaj   +1 more source

Glucocerebrosidase Mutations in Parkinson Disease

Journal of Parkinson's Disease, 2017
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD.
Ruth-Mary deSouza, Anthony H.V. Schapira, Roberta Balestrino, Grace C. O'Regan   +3 more
openaire   +4 more sources

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Molecular Genetics & Genomic Medicine, 2020
Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou   +8 more
doaj   +1 more source

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

Frontiers in Neurology, 2022
Gaucher Disease (GD) 2 is a rare inherited lysosomal disorder. Early-onset and rapid progression of neurovisceral symptoms lead to fatal outcome in early childhood. Treatment is symptomatic, a curative therapy is currently not available. This prospective
Charlotte Aries, Benjamin Lohmöller, Stephan Tiede, Stephan Tiede, Karolin Täuber, Karolin Täuber, Guido Hartmann, Cornelia Rudolph, Nicole Muschol   +8 more
doaj   +1 more source

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site [PDF]

Journal of the American Chemical Society, 2018
β-Glucocerebrosidase (GCase) mutations cause Gaucher's disease and are a high risk factor in Parkinson's disease. The implementation of a small molecule modulator is a strategy to restore proper folding and lysosome delivery of degradation-prone mutant GCase. Here, we present a potent quinazoline modulator, JZ-4109, which stabilizes wild-type and N370S
Jianbin Zheng, Long Chen, Owen S. Skinner, Daniel Ysselstein, Jonathan Remis, Peter Lansbury, Renato Skerlj, Michael Mrosek, Ursula Heunisch, Stephan Krapp, Joel Charrow, Michael Schwake, Neil L. Kelleher, Richard B. Silverman, Dimitri Krainc   +14 more
openaire   +2 more sources

Mechanisms of Glucocerebrosidase Dysfunction in Parkinson’s Disease

Journal of Molecular Biology, 2023
Beta-glucocerebrosidase is a lysosomal hydrolase, encoded by GBA1 that represents the most common risk gene associated with Parkinson's disease (PD) and Lewy Body Dementia. Glucocerebrosidase dysfunction has been also observed in the absence of GBA1 mutations across different genetic and sporadic forms of PD and related disorders, suggesting a broader ...
Diptaman, Chatterjee, Dimitri, Krainc
openaire   +2 more sources

The Emerging Role of the Lysosome in Parkinson’s Disease

Cells, 2020
Lysosomal function has a central role in maintaining neuronal homeostasis, and, accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to Parkinson’s disease (PD).
Alba Navarro-Romero, Marta Montpeyó, Marta Martinez-Vicente   +2 more
doaj   +1 more source

Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease

JIMD Reports, 2022
Introduction Gaucher disease (GD) is a monogenic, lysosomal storage disorder, classified according to the presence of acute (type 2), chronic (type 3), or no (type 1) neurological manifestations.
Panagiota Tsitsi, Ioanna Markaki, Josefine Waldthaler, Maciej Machaczka, Per Svenningsson   +4 more
doaj   +1 more source

LRRK2 and Lipid Pathways: Implications for Parkinson’s Disease

Biomolecules, 2022
Genetic alterations in the LRRK2 gene, encoding leucine-rich repeat kinase 2, are a common risk factor for Parkinson’s disease. How LRRK2 alterations lead to cell pathology is an area of ongoing investigation, however, multiple lines of evidence suggest ...
Jasmin Galper, Woojin S. Kim, Nicolas Dzamko   +2 more
doaj   +1 more source

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

Frontiers in Neurology, 2021
Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson disease (PD). These include pathogenic variants causing Gaucher disease (GD) (divided into “severe,” “mild,” or “complex”—resulting from recombinant ...
Elisa Menozzi, Anthony H. V. Schapira
doaj   +1 more source