Results 51 to 60 of about 11,713 (255)

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

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, Marília Pereira, Deborah A. Hammond, J. Kwok, G. Halliday, S. Lewis, Nicolas Dzamko   +6 more
semanticscholar   +1 more source

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

Inhibition of microglial β-glucocerebrosidase hampers the microglia-mediated antioxidant and protective response in neurons

Journal of Neuroinflammation, 2021
Homozygotic mutations in the GBA gene cause Gaucher’s disease; moreover, both patients and heterozygotic carriers have been associated with 20- to 30-fold increased risk of developing Parkinson’s disease.
Electra Brunialti, A. Villa, Marianna Mekhaeil, Federica Mornata, E. Vegeto, A. Maggi, D. D. Di Monte, P. Ciana   +7 more
semanticscholar   +1 more source

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
Marina, Siebert, Ellen, Sidransky, Wendy, Westbroek   +2 more
openaire   +2 more sources

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

High-throughput screening for small-molecule stabilizers of misfolded glucocerebrosidase in Gaucher disease and Parkinson’s disease

Proceedings of the National Academy of Sciences of the United States of America
Significance Gaucher disease, the inherited deficiency of glucocerebrosidase, is caused by biallelic loss-of-function mutations in the gene GBA1, which is also the most frequent genetic risk factor for Parkinson’s disease.
Darian Williams, Logan M. Glasstetter, T. Jong, Tiffany Chen, Abhijeet Kapoor, Sha Zhu, Yanping Zhu, Raul Calvo, Alexandra Gehrlein, K.-Y. Wong, Andrew N Hogan, D. Vocadlo, Ravi Jagasia, Juan J Marugan, Ellen Sidransky, Mark J. Henderson, Yu Chen   +16 more
semanticscholar   +1 more source

Glucocerebrosidase mutations in primary parkinsonism

Parkinsonism & Related Disorders, 2014
Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism.We studied 2766 unrelated consecutive patients with clinical diagnosis of primary degenerative parkinsonism ...
R. Asselta, V. Rimoldi, C. Siri, R. Cilia, I. Guella, S. Tesei, G. Soldà, G. Pezzoli, S. Duga, S. Goldwurm   +9 more
openaire   +2 more sources