Results 1 to 10 of about 14,130 (212)

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

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

Comparative analysis of methods for measuring glucocerebrosidase enzyme activity in patients with Parkinson’s disease with the GBA1 variant [PDF]

Frontiers in Neurology
IntroductionGBA1 variants are significant genetic risk factors for Parkinson’s disease (PD). Accurately measuring glucocerebrosidase (GCase) activity is crucial for understanding disease progression and developing targeted therapies.
Jin Hwangbo, Myung Jun Lee, Myung Jun Lee, Sang Jin Kim, Hyun Kyung Park, Jae-Hyeok Lee, Jae-Hyeok Lee   +6 more
doaj   +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   +9 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

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

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   +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