Results 31 to 40 of about 10,389 (214)

Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

Frontiers in Neurology, 2022
Gaucher Disease (GD) 2 is a rare inherited lysosomal disorder. Early-onset and rapid progression of neurovisceral symptoms lead to fatal outcome in early childhood. Treatment is symptomatic, a curative therapy is currently not available. This prospective
Charlotte Aries, Benjamin Lohmöller, Stephan Tiede, Stephan Tiede, Karolin Täuber, Karolin Täuber, Guido Hartmann, Cornelia Rudolph, Nicole Muschol   +8 more
doaj   +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

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

Expression of mutated glucocerebrosidase alleles in human cells [PDF]

, 1997
Gaucher disease is a heterogeneous disease characterized by impaired activity of the lysosomal enzyme glucocerebrosidase. This heterogeneity is attributed to a large number of mutations in the corresponding gene.
Gatt, S., Pasmanik-Chor, M., Stein, O.E., Horowitz, M., Stein, E. O., Aerts, J.M.F.G., Madar-Shapiro, L., Aerts, H.   +7 more
core   +2 more sources

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

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations [PDF]

, 2021
Objective We utilized human midbrain-like organoids (hMLOs) generated from human pluripotent stem cells carrying glucocerebrosidase gene (GBA1) and α-synuclein (α-syn; SNCA) perturbations to investigate genotype-to-phenotype relationships in Parkinson ...
Hoang‐Dai Tran, Bin Xiao, Je, Hyunsoo, Jung, Byung, Audrey Tze Ting Khoo, Tzuen Yih Saw, Yu, Weonjin, Je, Hyunsoo Shawn, Lokman, Hidayat, Chang, Ya Yin, Eng‐King Tan, Weonjin Yu, Tran, Hoang-Dai, Wei‐Yi Ong, Saw, Tzuen Yih, Yaw, Lai‐Ping, Tan, Eng-King, Junghyun Jo, Lee, Seung-Jae, Khoo, Audrey Tze Ting, Lim, Kah‐Leong, Ong, Wei‐Yi, Lai‐Ping Yaw, Lim, Kah-Leong, Ng, Huck-Hui, Alfred Xuyang Sun, Hyunsoo Shawn Je, Lim, Grace, Byung Chul Jung, Jung, Byung Chul, Chang, Ya, Lim, Grace Gui Yin, Sun, Alfred Xuyang, Xiao, Bin, Lin Yang, Hidayat Lokman, Khoo, Audrey, Tran, Hoang‐Dai, Kah‐Leong Lim, Ong, Wei-Yi, Jessica Jiaxin Xie, Tan, Eng‐King, Ng, Huck‐Hui, Seung‐Jae Lee, Lee, Seung‐Jae, Grace Gui Yin Lim, Sun, Alfred, Yaw, Lai-Ping, Yang, Lin, Saw, Tzuen, Jo, Junghyun, Xie, Jessica, Xie, Jessica Jiaxin, Huck‐Hui Ng, Ya Yin Chang, Huck‐Hui, Ng, Audrey Tze Ting, Khoo, Weonjin, Yu, Grace Gui Yin, Lim, Lin, Yang, Eng‐King, Tan, Hoang‐Dai, Tran, Junghyun, Jo, Tzuen Yih, Saw, Hyunsoo Shawn, Je, Alfred Xuyang, Sun, Kah‐Leong, Lim, Lai‐Ping, Yaw, Byung Chul, Jung, Hidayat, Lokman, Jessica Jiaxin, Xie, Ya Yin, Chang, Wei‐Yi, Ong, Seung‐Jae, Lee, Bin, Xiao   +74 more
core   +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

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

Angewandte Chemie, Volume 138, Issue 41, 5 October 2026.
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   +2 more sources