Results 61 to 70 of about 4,639 (191)

Impact of Gba2 on neuronopathic Gaucher’s disease and α-synuclein accumulation in medaka (Oryzias latipes)

Molecular Brain, 2021
Homozygous mutations in the lysosomal glucocerebrosidase gene, GBA1, cause Gaucher’s disease (GD), while heterozygous mutations in GBA1 are a strong risk factor for Parkinson’s disease (PD), whose pathological hallmark is intraneuronal α-synuclein (asyn)
Etsuro Nakanishi, Norihito Uemura, Hisako Akiyama, Masato Kinoshita, Sawamura Masanori, Yosuke Taruno, Hodaka Yamakado, Shu-ichi Matsuzawa, Shunichi Takeda, Yoshio Hirabayashi, Ryosuke Takahashi   +10 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

Clinical Experience With Eliglustat in Children With Gaucher Disease Type 1

American Journal of Medical Genetics Part A, EarlyView.
Erika R. Vucko, Allegra Quadri, Rachel E. Hickey, Carly A. Rasmussen, Monika Izdebski, Joel Charrow, Carlos E. Prada   +6 more
wiley   +1 more source

Timing of Deep Brain Stimulation and Cognitive Trajectories in GBA1‐Associated Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Individuals with Parkinson's disease (PD) carrying GBA1 variants often develop advanced motor complications that prompt evaluation for deep brain stimulation (DBS). However, concerns about accelerated cognitive decline after DBS in GBA1 carriers complicate clinical decision making.
Evridiki Asimakidou, Micol Avenali, Jan O. Aasly, Mitra Afshari, Roy N. Alcalay, Sharlet Anderson, Carlo Alberto Artusi, Bryan Bernard, Marco Bozzali, Susan Bressman, Giovanna Calandra‐Buonaura, Francesco Cavallieri, Roberto Cilia, Jean‐Christoph Corvol, Antoniangela Cocco, Rob M.A. de Bie, Debra Ehrlich, Roberto Eleopra, Thomas Foltynie, Alessio Di Fonzo, Giulia Giannini, Christopher Goetz, Deborah Hall, Joohi Jimenez‐Shahed, Leonardo Lopiano, Vanessa Lythe, Maria Chiara Malaguti, Francesca Mameli, Graziella Mangone, Karen Marder, M. Maral Mouradian, Augusto Rini, Luisa Sambati, Rachel Saunders‐Pullman, Vicki Lynn Shanker, Francesca Spagnolo, Marie‐Laure Welter, Roberta Zangaglia, Gian Pal, Enza Maria Valente, PARKNET Study Group, Giada Cuconato, Ilaria Palmieri, Alberto Imarisio, Pierfrancesco Mitrotti, Francesca Valentino, Claudio Pacchetti, Gabriele Imbalzano, Claudia Ledda, Silvia Gallo, Pietro Cortelli, Luca Baldelli, Ilaria Cani, Raffaella Minardi, Valerio Carelli, Franco Valzania, Edoardo Monfrini, Filippo Cogiamanian, Chiara Longo, Fabiana Colucci, Luigi M. Romito, Marco Liccari   +61 more
wiley   +1 more source

AAV gene therapy for GBA1-related diseases

Molecular Therapy
Mutations in GBA1, the gene encoding glucocerebrosidase (GCase), are the most common risk factor for Parkinson's disease (PD). GBA-PD patients are a genetic subpopulation of PD carrying heterozygous mutations in GBA1. Additionally, bi-allelic mutations in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder. Loss of GCase activity, a lysosomal
Swathi Ayloo, Jae Cheon Ryu, Shih-Ching Chou, Lydia Blatnik, Erik Wischhof, Jie Bu, Lilu Guo, Mahmud Hossain, Dhiman Ghosh, William McCarty, Ann Byrne, Lilly Chai, Jennifer Clarke, Can Kayatekin, Bailin Zhang, S. Pablo Sardi, Martin Goulet, Bradford Elmer, Christian Mueller, Shyam Ramachandran   +19 more
openaire   +2 more sources

GBA1 Variants and Parkinson’s Disease: Paving the Way for Targeted Therapy

Journal of Movement Disorders, 2023
<i>Glucosylceramidase beta 1</i> (<i>GBA1</i>) variants have attracted enormous attention as the most promising and important genetic candidates for precision medicine in Parkinson’s disease (PD). A substantial correlation between <i>GBA1</i> genotypes and PD phenotypes could inform the prediction of disease ...
Young Eun Huh, Tatiana Usnich, Clemens R. Scherzer, Christine Klein, Sun Ju Chung   +4 more
openaire   +2 more sources

GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations

Movement Disorders, EarlyView.
Abstract Introduction GCH1 has been implicated in Parkinson's disease (PD), but its risks variants and associations are not well defined. Objectives Our goal was to investigate the clinical relevance and PD risk associated with the GCH1 p.Ser80Asn variant.
Yi Wen Tay, Andrew Leslie Lee, Jie Ping Schee, Chin‐Hsien Lin, Eng King Tan, Jung Hwan Shin, Pin‐Shiuan Chen, Sung‐Pin Fan, Cheng‐Hsuan Li, Ebonne Yu Lin Ng, Han Joon Kim, Beomseok Jeon, Sulev Koks, Huyen Thi Thanh Vu, Kin Ying Mok, Yi Ting Lim, Mohd Salahuddin Kamaruddin, Tzi Shin Toh, Hans Xing Ding, Anis Nadhirah Khairul Anuar, Norlisah Ramli, Ignacio J. Keller Sarmiento, Maria Teresa Periñan, Zih‐Hua Fang, Lara M. Lange, Kishore R. Kumar, Soraya Bardien, Joanne Trinh, Enza Maria Valente, SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2), Peter Heutink, Katja Lohmann, Christine Klein, Niccolò E. Mencacci, Shen‐Yang Lim, Azlina Ahmad‐Annuar, Ai Huey Tan   +37 more
wiley   +1 more source

GP2code/GBA1-rs3115534-branchpoint: Initial Release - Zenodo

This is the online repository for the manuscript titled "African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in ...
Mary B. Makarious
core   +1 more source

DNA Methylation of α-Synuclein Intron 1 Is Significantly Decreased in the Frontal Cortex of Parkinson’s Individuals with GBA1 Mutations

, 2023
Parkinson’s disease (PD) is a common movement disorder, estimated to affect 4% of individuals by the age of 80. Mutations in the glucocerebrosidase 1 (GBA1) gene represent the most common genetic risk factor for PD, with at least 7–10% of non-
Katie Lunnon, Adam R. Smith, Anna Migdalska-Richards, Anthony H. V. Schapira, David M. Richards, Migdalska-Richards, Anna, Schapira, Anthony H. V., Smith, Adam R., Richards, David M., Lunnon, Katie   +9 more
core   +1 more source

Lysosomal Expression Profile in Plasma Associates with Disease Severity in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Parkinson's disease (PD) is a clinically and biologically heterogeneous neurodegenerative disorder, driven by multiple mechanisms among which are lysosomal and mitochondrial dysfunction. Here, we explored blood‐based lysosomal and mitochondrial profiles in relation to PD diagnosis and severity.
Janna van Wetering, Manon M. van Ingen, Evelien Timmermans, Sjors G.J.G. in't Veld, Henk W. Berendse, Charlotte E. Teunissen, Wilma D.J. van de Berg   +6 more
wiley   +1 more source