Results 31 to 40 of about 3,043 (176)

Tool compounds robustly increase turnover of an artificial substrate by glucocerebrosidase in human brain lysates. [PDF]

PLoS ONE, 2015
Mutations in glucocerebrosidase (GBA1) cause Gaucher disease and also represent a common risk factor for Parkinson's disease and Dementia with Lewy bodies. Recently, new tool molecules were described which can increase turnover of an artificial substrate
Zdenek Berger, Sarah Perkins, Claude Ambroise, Christine Oborski, Matthew Calabrese, Stephen Noell, David Riddell, Warren D Hirst   +7 more
doaj   +1 more source

The effect of mutant GBA1 on accumulation and aggregation of α-synuclein

Human Molecular Genetics, 2019
Gaucher disease (GD) patients and carriers of GD mutations have a higher propensity to develop Parkinson's disease (PD) in comparison to the non-GD population. This implies that mutant GBA1 allele is a predisposing factor for the development of PD. One of the major characteristics of PD is the presence of oligomeric α-synuclein-positive inclusions ...
Gali, Maor, Debora, Rapaport, Mia, Horowitz   +2 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

Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation

Neurobiology of Disease, 2020
The presence of GBA1 gene mutations increases risk for Parkinson's disease (PD), but the pathogenic mechanisms of GBA1 associated PD remain unknown. Given that impaired α-synuclein turnover is a hallmark of PD pathogenesis and cathepsin D is a key enzyme
Shi-yu Yang, Matthew Gegg, David Chau, Anthony Schapira   +3 more
doaj   +1 more source

Epigenomic profile of GBA1 in Parkinson's disease

Parkinsonism & Related Disorders
While genome-wide association studies have identified GBA1 as a key gene contributing to disease severity and cognitive decline in PD, its molecular effects remain poorly understood.We used integrative bulk ATAC-seq across six brain regions from autopsied individuals with PD and varying genetic risk to characterize region- and cell type-specific ...
Eloise Berson, Raphael Zaghroun, Matteo Santoro, Syed Bukhari, David Seong, Chi-Hung Shu, Amalia Perna, Tomin James, Kathleen S. Montine, Geidy E. Serrano, Thomas G. Beach, C. Dirk Keene, Howard Y. Chang, M. Ryan Corces, Brenna Cholerton, Nima Aghaeepour, Thomas J. Montine   +16 more
openaire   +3 more sources

The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene

Journal of Integrative Neuroscience
Background: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich repeat kinase 2 (LRRK2), respectively, are the most common related to Parkinson’s
Tatiana S. Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina   +10 more
doaj   +1 more source

GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies [PDF]

Molecular Genetics and Metabolism, 2020
The discovery that patients with Gaucher Disease (GD), a rare lysosomal storage disorder, were developing symptoms similar to Parkinson's disease (PD) led to investigation of the relationship between the two seemingly unrelated pathologies. GD, an autosomal recessive disorder, is the result of a biallelic mutation in the gene GBA1, which encodes for ...
Parker H, Johnson, Neal J, Weinreb, James C, Cloyd, Paul J, Tuite, Reena V, Kartha   +4 more
openaire   +2 more sources

NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN‐DBS status

Annals of Clinical and Translational Neurology
Objective Mutations in the glucocerebrosidase (GBA1) gene and subthalamic nucleus deep brain stimulation (STN‐DBS) are independently associated with cognitive dysfunction in persons with Parkinson's disease (PwP).
Ahmad Almelegy, Srujanesh Gunda, Steven Buyske, Marc Rosenbaum, Sepehr Sani, Mitra Afshari, Leo V. Metman, Christopher G. Goetz, Deborah Hall, M. Maral Mouradian, Gian Pal   +10 more
doaj   +1 more source

Association between plasma glucosylsphingosine levels and dyskinesia burden in GBA1-related Parkinson's disease

Neurobiology of Disease
Background: GBA1 mutation is the most significant genetic risk factor for Parkinson's disease (PD). It encodes glucocerebrosidase (GCase), whose dysfunction – seen in Gaucher disease - leads to the accumulation of glucosylceramide and its derivate ...
Massimo Marano, Carmela Zizzo, Francesco Cavallieri, Micol Avenali, Tommaso Schirinzi, Edoardo Monfrini, Francesca Spagnolo, Rosa De Micco, Silvia Ramat, Maria Chiara Malaguti, Federico Reali, Roberto Cilia, Miryam Carecchio, Andrea Pilotto, Roberto Erro, Ilaria Antonella di Vico, Mario Meloni, Giulia Di Lazzaro, Sara Pietracupa, Claudia Ledda, Giovanni Mostile, Marcello Mario Mascia, Valentina Fioravanti, Giulia di Rauso, Roberta Bovenzi, Simone Aloisio, Marco Liccari, Ruggero Bacchin, Fabiana Colucci, Giulia Bonato, Alessandro Lupini, Alessandro Magliozzi, Cristiano Sorrentino, Francesca Leo, Giulia Franco, Nicola Modugno, Maurizio Zibetti, Gennarina Arabia, Anna Rita Bentivoglio, Elena Caputo, Filippo Tamma, Alessandro Padovani, Mario Zappia, Roberto Eleopra, Michele Tinazzi, Giovanni Fabbrini, Alessandro Tessitore, Vincenzo Di Lazzaro, Enza Maria Valente, Giovanni Duro, Alessio Di Fonzo   +50 more
doaj   +1 more source

A Biomarker Study in Patients with GBA1‐Parkinson's Disease and Healthy Controls

Movement Disorders, 2023
AbstractBackgroundMolecules related to glucocerebrosidase (GCase) are potential biomarkers for development of compounds targeting GBA1‐associated Parkinson's disease (GBA‐PD).ObjectivesAssessing variability of various glycosphingolipids (GSLs) in plasma, peripheral blood mononuclear cells (PBMCs), and cerebrospinal fluid (CSF) across GBA‐PD, idiopathic
Jonas M. den Heijer, Valerie C. Cullen, Diana R. Pereira, Yalcin Yavuz, Marieke L. de Kam, Hendrika W. Grievink, Matthijs Moerland, Nancy Leymarie, Kshitij Khatri, Imelda Sollomoni, Leslie Spitalny, Lindsay Dungeon, Dana C. Hilt, Craig Justman, Peter Lansbury, Geert Jan Groeneveld   +15 more
openaire   +3 more sources