Results 31 to 40 of about 7,167 (179)

The Emerging Role of the Lysosome in Parkinson’s Disease

Cells, 2020
Lysosomal function has a central role in maintaining neuronal homeostasis, and, accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to Parkinson’s disease (PD).
Alba Navarro-Romero, Marta Montpeyó, Marta Martinez-Vicente   +2 more
doaj   +1 more source

Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease

JIMD Reports, 2022
Introduction Gaucher disease (GD) is a monogenic, lysosomal storage disorder, classified according to the presence of acute (type 2), chronic (type 3), or no (type 1) neurological manifestations.
Panagiota Tsitsi, Ioanna Markaki, Josefine Waldthaler, Maciej Machaczka, Per Svenningsson   +4 more
doaj   +1 more source

LRRK2 and Lipid Pathways: Implications for Parkinson’s Disease

Biomolecules, 2022
Genetic alterations in the LRRK2 gene, encoding leucine-rich repeat kinase 2, are a common risk factor for Parkinson’s disease. How LRRK2 alterations lead to cell pathology is an area of ongoing investigation, however, multiple lines of evidence suggest ...
Jasmin Galper, Woojin S. Kim, Nicolas Dzamko   +2 more
doaj   +1 more source

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers

Frontiers in Neurology, 2021
Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson disease (PD). These include pathogenic variants causing Gaucher disease (GD) (divided into “severe,” “mild,” or “complex”—resulting from recombinant ...
Elisa Menozzi, Anthony H. V. Schapira
doaj   +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

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

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl‐Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies

Angewandte Chemie International Edition, EarlyView.
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
Nicky de Koster, Òscar Vidal‐Gironès, Rowan de Graaf, Ken Kok, Lindsey T. Lelieveld, Jackelien Hoogervorst, Maria J. Ferraz, José Pablo Rivas‐Fernández, Rob F. Lammers, Herman S. Overkleeft, Johannes M. F. G. Aerts, Rolf G. Boot, Carme Rovira, Marta Artola   +13 more
wiley   +1 more source

Glucocerebrosidase mutations in primary parkinsonism

Parkinsonism & Related Disorders, 2014
Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism.We studied 2766 unrelated consecutive patients with clinical diagnosis of primary degenerative parkinsonism ...
Asselta, Rosanna, Rimoldi, Valeria, Siri, Chiara, Cilia, Roberto, Guella, Ilaria, Tesei, Silvana, Soldà, Giulia, Pezzoli, Gianni, Duga, Stefano, Goldwurm, Stefano   +9 more
openaire   +2 more sources

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Alzheimer's Biomarkers and Visuospatial Cognition in Parkinson's Disease: Modification by α‐Synuclein and Mediation of Age Effects

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Visuospatial deficits in Parkinson's disease (PD) often precede dementia and complicate daily functioning. Alzheimer's disease (AD) pathology and α‐synuclein aggregation frequently co‐occur in PD, but their combined impact on cognition is unclear.
David Ledingham, Sahana Sathyanarayana, Charlotte B. Stewart, Robyn Iredale, Victoria Foster, Debra Galley, Meher Lad, Mark R. Baker, Nicola Pavese   +8 more
wiley   +1 more source