Results 1 to 10 of about 940,251 (149)

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

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   +4 more sources

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

Journal of Neuroinflammation, 2021
Background 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. In homozygosis, these mutations impair
Electra Brunialti, Alessandro Villa, Marianna Mekhaeil, Federica Mornata, Elisabetta Vegeto, Adriana Maggi, Donato A. Di Monte, Paolo Ciana   +7 more
doaj   +3 more sources

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   +3 more sources

N-Alkylated Iminosugar Based Ligands: Synthesis and Inhibition of Human Lysosomal β-Glucocerebrosidase [PDF]

Molecules, 2020
The scope of a series of N-alkylated iminosugar based inhibitors in the d-gluco as well as d-xylo configuration towards their interaction with human lysosomal β-glucocerebrosidase has been evaluated.
Andreas Wolfsgruber, Martin Thonhofer, Patrick Weber, Seyed A. Nasseri, Roland Fischer, Michael Schalli, Arnold E. Stütz, Stephen G. Withers, Tanja M. Wrodnigg   +8 more
doaj   +3 more sources

Identification of genetic modifiers of murine hepatic β-glucocerebrosidase activity [PDF]

Biochemistry and Biophysics Reports, 2021
The acid β-glucocerebrosidase (GCase) enzyme cleaves glucosylceramide into glucose and ceramide. Loss of function variants in the gene encoding for GCase can lead to Gaucher disease and Parkinson's disease.
Anyelo Durán, Boris Rebolledo-Jaramillo, Valeria Olguin, Marcelo Rojas-Herrera, Macarena Las Heras, Juan F. Calderón, Silvana Zanlungo, David A. Priestman, Frances M. Platt, Andrés D. Klein   +9 more
doaj   +4 more sources

Transient Production of Human β-Glucocerebrosidase With Mannosidic-Type N-Glycan Structure in Glycoengineered Nicotiana benthamiana Plants [PDF]

Frontiers in Plant Science, 2021
Gaucher disease is an inherited lysosomal storage disorder caused by a deficiency of functional enzyme β-glucocerebrosidase (GCase). Recombinant GCase has been used in enzyme replacement therapy to treat Gaucher disease. Importantly, the terminal mannose
Naphatsamon Uthailak, Hiroyuki Kajiura, Hiroyuki Kajiura, Ryo Misaki, Ryo Misaki, Kazuhito Fujiyama, Kazuhito Fujiyama, Kazuhito Fujiyama   +7 more
doaj   +2 more sources

Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct [PDF]

Nature Communications, 2023
Mutations in glucocerebrosidase cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease. Therapies to restore the enzyme’s function in the brain hold great promise for treating the neurological ...
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, Ralf Thoma, Arne Rufer, Dominik Heer, Nina Pfahler, Anton Jochner, Jens Niewoehner, Luise Wolf, Matthias Fueth, Martin Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew C. Deen, Xiaoyang Shan, Zahra Ehsaei, Verdon Taylor, Ellen Sidransky, David J. Vocadlo, Per-Ola Freskgård, Ravi Jagasia   +25 more
doaj   +2 more sources

Quantitative and Comparative Assessment of Recombinant Human β-Glucocerebrosidase Uptake Bioactivity Using a Stable hMMR-Expressing CHO Cell Model [PDF]

Molecules
Inconsistent conclusions on the cellular uptake of recombinant human β-glucocerebrosidase (rhGCase) for Gaucher disease stem from a fundamental limitation of existing methods: their inability to generate complete and reliable dose–response curves.
Lyuyin Wang, Kaixin Xu, Ping Lyu, Xinyue Hu, Jing Li   +4 more
doaj   +2 more sources

Characterization of Novel Human β-glucocerebrosidase Antibodies for Parkinson’s Disease Research [PDF]

Journal of Parkinson’s Disease
Background: Mutations in GBA1 , which encodes the lysosome enzyme β-glucocerebrosidase (also referred to as acid β-glucosidase or GCase), are the most common genetic risk factor for Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Tiffany Jong, Alexandra Gehrlein, Ellen Sidransky, Ravi Jagasia, Yu Chen   +4 more
doaj   +2 more sources

Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease [PDF]

EBioMedicine, 2016
Gaucher disease (GD), the most common lysosomal storage disease, is caused by mutations in GBA1 encoding of β-glucocerebrosidase (GCase). Recently it was reported that progranulin (PGRN) insufficiency and deficiency associated with GD in human and mice ...
Jinlong Jian, Qing-Yun Tian, Aubryanna Hettinghouse, Shuai Zhao, Helen Liu, Jianlu Wei, Gabriele Grunig, Wujuan Zhang, Kenneth D.R. Setchell, Ying Sun, Herman S. Overkleeft, Gerald L. Chan, Chuan-ju Liu   +12 more
doaj   +2 more sources