Results 61 to 70 of about 11,713 (255)

Non-iminosugar glucocerebrosidase small molecule chaperones [PDF]

Med. Chem. Commun., 2012
Small molecule chaperones are a promising therapeutic approach for the Lysosomal Storage Disorders (LSDs). Here, we report the discovery of a new series of non-iminosugar glucocerebrosidase inhibitors with chaperone capacity, and describe their structure activity relationship (SAR), selectivity, cell activity phamacokinetics.
Juan Jose, Marugan, Wenwei, Huang, Omid, Motabar, Wei, Zheng, Jingbo, Xiao, Samarjit, Patnaik, Noel, Southall, Wendy, Westbroek, Wendy A, Lea, Anton, Simeonov, Ehud, Goldin, Maria A, Debernardi, Ellen, Sidransky   +12 more
openaire   +2 more sources

Glucocerebrosidase: Functions in and Beyond the Lysosome

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.
D. Boer, Jeroen van Smeden, J. Bouwstra, J. Aerts   +3 more
semanticscholar   +1 more source

Glucocerebrosidase mutations in subjects with parkinsonism [PDF]

Molecular Genetics and Metabolism, 2004
Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease.
Alicia, Lwin, Eduard, Orvisky, Ozlem, Goker-Alpan, Mary E, LaMarca, Ellen, Sidransky   +4 more
openaire   +2 more sources

Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease

Movement Disorders, 2020
Glucocerebrosidase gene mutations are a common genetic risk factor for Parkinson's disease. They exhibit incomplete penetrance. The objective of the present study was to measure microglial activation and dopamine integrity in glucocerebrosidase gene ...
S. Mullin, M. Stokholm, D. Hughes, A. Mehta, Peter Parbo, R. Hinz, N. Pavese, D. Brooks, A. Schapira   +8 more
semanticscholar   +1 more source

Glucosylated cholesterol in mammalian cells and tissues: formation and degradation by multiple cellular β-glucosidases[S]

Journal of Lipid Research, 2016
The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) and GBA2, located in and outside the lysosome, respectively.
AndréR.A. Marques, Mina Mirzaian, Hisako Akiyama, Patrick Wisse, Maria J. Ferraz, Paulo Gaspar, Karen Ghauharali-van der Vlugt, Rianne Meijer, Pilar Giraldo, Pilar Alfonso, Pilar Irún, Maria Dahl, Stefan Karlsson, Elena V. Pavlova, Timothy M. Cox, Saskia Scheij, Marri Verhoek, Roelof Ottenhoff, CindyP.A.A. van Roomen, Navraj S. Pannu, Marco van Eijk, Nick Dekker, Rolf G. Boot, Herman S. Overkleeft, Edward Blommaart, Yoshio Hirabayashi, Johannes M. Aerts   +26 more
doaj   +1 more source

Neurological effects of glucocerebrosidase gene mutations [PDF]

European Journal of Neurology, 2018
The association between Gaucher disease (GD) and Parkinson disease (PD) has been described for almost two decades. In the biallelic state (homozygous or compound heterozygous) mutations in the glucocerebrosidase gene (GBA) may cause GD, in which glucosylceramide, the sphingolipid substrate of the glucocerebrosidase enzyme (GCase), accumulates in ...
Mullin, S., Hughes, D., Mehta, A., Schapira, A. H. V.   +3 more
openaire   +3 more sources

Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease

Molecules, 2018
A series of sp2-iminosugar glycomimetics differing in the reducing or nonreducing character, the configurational pattern (d-gluco or l-ido), the architecture of the glycone skeleton, and the nature of the nonglycone substituent has been synthesized and ...
Teresa Mena-Barragán, M. Isabel García-Moreno, Alen Sevšek, Tetsuya Okazaki, Eiji Nanba, Katsumi Higaki, Nathaniel I. Martin, Roland J. Pieters, José M. García Fernández, Carmen Ortiz Mellet   +9 more
doaj   +1 more source

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective Whether cognitive decline in patients with Parkinson's disease (PD) carrying GBA1 variants is accelerated after subthalamic deep brain stimulation (STN‐DBS) remains controversial. Clarifying long‐term cognitive outcomes is essential for informed decision making.
Moritz A. Loeffler, Philipp Klocke, Isabel Wurster, Stefanie Lerche, Idil Cebi, Thomas Gasser, Alireza Gharabaghi, Kathrin Brockmann, Daniel Weiss   +8 more
wiley   +1 more source

3,4,5‐Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers

ChemBioChem, 2022
AbstractThe synthesis of five new multivalent derivatives of a trihydroxypiperidine iminosugar was accomplished through copper catalyzed alkyne‐azide cycloaddition (CuAAC) reaction of an azido ending piperidine and several propargylated scaffolds. The resulting multivalent architectures were assayed as inhibitors of lysosomal GCase, the defective ...
Costanza Vanni, Francesca Clemente, Paolo Paoli, Amelia Morrone, Camilla Matassini, Andrea Goti, Francesca Cardona   +6 more
openaire   +3 more sources

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers

Frontiers in Neurology, 2021
Mutations and variants in the glucocerebrosidase (GBA) gene are among the most common genetic risk factors for the development of Parkinson's disease (PD).
E. Moran, S. Bressman, Robert Ortega, D. Raymond, W. Nichols, C. Palmese, S. Elango, M. Swan, V. Shanker, Imali Perera, Cuiling Wang, M. Zimmerman, R. Saunders-Pullman   +12 more
semanticscholar   +1 more source