Results 11 to 20 of about 10,389 (214)

Impaired β-glucocerebrosidase activity and processing in frontotemporal dementia due to progranulin mutations [PDF]

Acta Neuropathologica Communications, 2019
Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Andrew E. Arrant, Jonathan R. Roth, Nicholas R. Boyle, Shreya N. Kashyap, Madelyn Q. Hoffmann, Charles F. Murchison, Eliana Marisa Ramos, Alissa L. Nana, Salvatore Spina, Lea T. Grinberg, Bruce L. Miller, William W. Seeley, Erik D. Roberson   +12 more
doaj   +2 more sources

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 M. Gatto, Gustavo Da Prat, Jose Luis Etcheverry, Guillermo Drelichman, Martin Cesarini   +4 more
doaj   +3 more sources

Integrating Gaucher disease (GD) into mainstream hematological curriculum training. [PDF]

Hemasphere
HemaSphere, Volume 10, Issue 10, October 2026.
Bradley C, Symeonidis A, Salek S, Jacob N.   +3 more
europepmc   +2 more sources

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease [PDF]

Disease Models & Mechanisms, 2016
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Wendy Westbroek, Matthew Nguyen, Marina Siebert, Taylor Lindstrom, Robert A. Burnett, Elma Aflaki, Olive Jung, Rafael Tamargo, Jorge L. Rodriguez-Gil, Walter Acosta, An Hendrix, Bahafta Behre, Nahid Tayebi, Hideji Fujiwara, Rohini Sidhu, Benoit Renvoise, Edward I. Ginns, Amalia Dutra, Evgenia Pak, Carole Cramer, Daniel S. Ory, William J. Pavan, Ellen Sidransky   +22 more
doaj   +2 more sources

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., Schapira, Anthony H. V.   +1 more
openaire   +2 more sources

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, Maynard, Dawn, Wang, Eric S., Makusky, Anthony, Murray, Gary J., Martin, Brian M.   +5 more
openaire   +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
Daphne E.C. Boer, Jeroen van Smeden, Joke A. Bouwstra, Johannes M.F.G Aerts   +3 more
openaire   +2 more sources

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Gegg, ME, Osellame, LD, Richard-Londt, A, Brandner, S, Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Duchen, MR, Schapira, AH   +9 more
core   +1 more source

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, Kim, Seung-Min, Lee, Sarah, Lee, Phil Hyu   +3 more
openaire   +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.
Gregory J, Kornhaber, Michael B, Tropak, Gustavo H, Maegawa, Steven J, Tuske, Stephen J, Coales, Don J, Mahuran, Yoshitomo, Hamuro   +6 more
openaire   +2 more sources