Results 51 to 60 of about 14,130 (212)

Glucocerebrosidase Mutations in Parkinson Disease

Journal of Parkinson's Disease, 2017
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD.
Ruth-Mary deSouza, Anthony H.V. Schapira, Roberta Balestrino, Grace C. O'Regan   +3 more
openaire   +4 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

A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse [PDF]

, 1995
Gaucher mice, created by targeted disruption of the glucocerebrosidase gene, are totally deficient in glucocerebrosidase and have a rapidly deteriorating clinical course analogous to the most severely affected type 2 human patients.
Eliason, W.K. (W.), Ginns, E.I. (E.), LaMarca, M.E. (M.), Martin, B.M. (B.), Mulligan, R.C., Reuser, A.J.J. (Arnold), Sidransky, E. (Ellen), Tremblay, M. (M.), Tybulewicz, V. (Victor), Westphal, H. (H.), Willemsen, R. (Rob)   +10 more
core   +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

Distinct Lysosomal Network Protein Profiles in Parkinsonian Syndrome Cerebrospinal Fluid. [PDF]

, 2016
BackgroundClinical diagnosis of parkinsonian syndromes like Parkinson's disease (PD), corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) is hampered by overlapping symptomatology and lack of diagnostic biomarkers, and definitive ...
Boman, Andrea, Boxer, Adam, Karydas, Anna, Kågedal, Katarina, Miller, Bruce, Rojas, Julio C, Seeley, William W, Svenningsson, Per, Svensson, Samuel   +8 more
core   +1 more source

Advanced 3D Platforms for Modeling CNS Neuroinflammation: Cell Integration, Techniques, and Challenges

Advanced Healthcare Materials, EarlyView.
This review summarizes the roles of key central nervous system cell types, the extracellular matrix, and the blood‐brain barrier in neuroinflammation, and their integration into diverse 3D culture systems. It examines major incorporation strategies, including direct co‐culture, hydrogel encapsulation, transwell migration assays, and bioprinting ...
Emmanuelle D. Aiyegbusi, Julia Di Stefano, Dearbhaile Dooley   +2 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

Targeting the PGRN‐BMP Lysosomal Axis With NPs@PGRN Reverses Immunometabolic Dysfunction in Chronic Septic Arthritis

Advanced Science, EarlyView.
Chronic septic arthritis involves intracellular bacterial persistence and lipid‐immune crosstalk via the PGRN‐BMP lysosomal axis. A dual‐targeting nanoparticle system (NPs@PGRN) restores lysosomal bactericidal function, reduces bacterial burden, and reprograms macrophage immunity, offering a novel therapeutic strategy. ABSTRACT Chronic septic arthritis,
Congsun Li, Jiaqi Fan, Tao Sun, Wushi Cui, Jiaxuan Zou, Weinan Yang, Liang Chen, Jian Xiao, Shicheng Wang, Tao Zhang, Jianqiao Hong, An Liu, Haobo Wu   +12 more
wiley   +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

β-Glucocerebrosidase Modulators Promote Dimerization of β-Glucocerebrosidase and Reveal an Allosteric Binding Site [PDF]

Journal of the American Chemical Society, 2018
β-Glucocerebrosidase (GCase) mutations cause Gaucher's disease and are a high risk factor in Parkinson's disease. The implementation of a small molecule modulator is a strategy to restore proper folding and lysosome delivery of degradation-prone mutant GCase. Here, we present a potent quinazoline modulator, JZ-4109, which stabilizes wild-type and N370S
Jianbin Zheng, Long Chen, Owen S. Skinner, Daniel Ysselstein, Jonathan Remis, Peter Lansbury, Renato Skerlj, Michael Mrosek, Ursula Heunisch, Stephan Krapp, Joel Charrow, Michael Schwake, Neil L. Kelleher, Richard B. Silverman, Dimitri Krainc   +14 more
openaire   +2 more sources