Results 21 to 30 of about 3,748 (212)

Identification of the Non-lysosomal Glucosylceramidase as β-Glucosidase 2 [PDF]

Journal of Biological Chemistry, 2006
The primary catabolic pathway for glucosylceramide is catalyzed by the lysosomal enzyme glucocerebrosidase that is defective in Gaucher disease patients. A distinct non-lysosomal glucosylceramidase has been described but its identity remained enigmatic for years.
Rolf G. Boot, Marri Verhoek, Wilma E. Donker‐Koopman, Anneke Strijland, Jan van Marle, Hermen S. Overkleeft, Tom Wennekes, Johannes M. F. G. Aerts   +7 more
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Interaction of saposins, acidic lipids, and glucosylceramidase.

Journal of Biological Chemistry, 1990
Activity of lysosomal glucosylceramidase is stimulated by two small glycoproteins, saposin A and C, which are, together with two other similar glycoproteins, derived from a single precursor protein. This enzyme is also stimulated by naturally occurring acidic lipids, such as phosphatidylserine and gangliosides. Using highly purified glucosylceramidase,
Sachio Morimoto, Y Kishimoto, John M. Tomich, Solly Weiler, Toya Ohashi, J. A. Barranger, Keith A. Kretz, J S O′Brien   +7 more
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Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease [PDF]

Orphanet Journal of Rare Diseases, 2013
Gaucher disease (GD) is the most common inherited lysosomal storage disorder in humans, caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GBA1). GD is clinically heterogeneous and although the type of GBA1 mutation plays a role in determining the type of GD, it does not explain the clinical variability seen among ...
Yildiz Yildiz, Per Hoffmann, S vom Dahl, Bernadette Breiden, Roger Sandhoff, Claus Niederau, Mia Horwitz, Stefan Karlsson, Mirella Filocamo, Deborah Elstein, Michael Beck, Konrad Sandhoff, Eugen Mengel, Maria Camila González, Markus M. Nöthen, Ellen Sidransky, Ari Zimran, Manuel Mattheisen   +17 more
openalex   +6 more sources

Synuclein Disorder-Related Genetic Determinants of Mild Behavioural Impairment in a Pre-Clinical Community Cohort. [PDF]

Int J Geriatr Psychiatry
ABSTRACT Background The GBA variant confers increased risk of synuclein disorders but it is unclear what impact it has in pre‐clinical groups. This study aimed to identify early psychiatric and cognitive manifestations amongst pre‐clinical GBA carriers in a community cohort.
Sander-Long M, Creese B, Corbett A, Rosenzweig I, Cummings J, Ballard C.   +5 more
europepmc   +2 more sources

Preclinical investigation of artesunate as a therapeutic agent for hepatocellular carcinoma via impairment of glucosylceramidase-mediated autophagic degradation [PDF]

Experimental & Molecular Medicine, 2022
AbstractArtesunate (ART) has been indicated as a candidate drug for hepatocellular carcinoma (HCC). Glucosylceramidase (GBA) is required for autophagic degradation. Whether ART regulates autophagic flux by targeting GBA in HCC remains to be defined. Herein, our data demonstrated that the dramatic overexpression of GBA was significantly associated with ...
Wenjia Chen, Zhaochen Ma, Lingxiang Yu, Xia Mao, Nan Ma, Xiaodong Guo, Xiaoli Yin, Funeng Jiang, Qian Wang, Jigang Wang, Mingliang Fang, Na Lin, Yanqiong Zhang   +12 more
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Erratum to: Current and Novel Aspects on the Non-lysosomal β-Glucosylceramidase GBA2 [PDF]

Neurochemical Research, 2016
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Massimo Aureli, Maura Samarani, Nicoletta Loberto, Giulia Mancini, Valentina Murdica, Elena Chiricozzi, Alessandro Prinetti, Rosaria Bassi, Sandro Sonnino   +8 more
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Glucosylceramidase Maintains Influenza Virus Infection by Regulating Endocytosis [PDF]

Journal of Virology, 2019
Influenza virus is the pathogen responsible for the second largest pandemic in human history. A better understanding of how influenza virus enters host cells may lead to the development of more-efficacious therapies against emerging strains of the virus.
Kelly Drews, Michael P. Calgi, William Casey Harrison, Camille M. Drews, Pedro Costa‐Pinheiro, Jeremy J.P. Shaw, Kendra A. Jobe, Elizabeth A. Nelson, John D. Han, Todd E. Fox, Judith M. White, Mark Kester   +11 more
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Molecular Basis of Reduced Glucosylceramidase Activity in the Most Common Gaucher Disease Mutant, N370S [PDF]

Journal of Biological Chemistry, 2010
Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase. Although the x-ray structure of wild type glucosylceramidase has been resolved, little is known about the structural features of any of the >200 mutations.
Marc N. Offman, Marcin Król, Israel Silman, Joel L. Sussman, Anthony H. Futerman   +4 more
openalex   +4 more sources

A Fluorescence Polarization Activity-Based Protein Profiling Assay in the Discovery of Potent, Selective Inhibitors for Human Nonlysosomal Glucosylceramidase

Journal of the American Chemical Society, 2017
Adrianus M C H van den Nieuwendijk, Tom Wennekes, Chi-Lin Kuo   +2 more
exaly   +2 more sources

Glucosylceramidase Mass and Subcellular Localization Are Modulated by Cholesterol in Niemann-Pick Disease Type C [PDF]

Journal of Biological Chemistry, 2004
Niemann-Pick disease type C (NPC) is characterized by the accumulation of cholesterol and sphingolipids in the late endosomal/lysosomal compartment. The mechanism by which the concentration of sphingolipids such as glucosylceramide is increased in this disease is poorly understood. We have found that, in NPC fibroblasts, the cholesterol storage affects
Rosa Salvioli, Susanna Scarpa, Fiorella Ciaffoni, Massimo Tatti, Carlo Ramoni, Marie T. Vanier, Anna Maria Vaccaro   +6 more
openalex   +5 more sources