Results 31 to 40 of about 3,074 (177)

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease

Frontiers in Neuroscience, 2023
Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson’s disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the defective lysosomal clearance of autophagic substrates and aggregate-prone ...
Fahad Mubariz, Afsoon Saadin, Nicholas Lingenfelter, Chinmoy Sarkar, Aditi Banerjee, Marta M. Lipinski, Marta M. Lipinski, Ola Awad   +7 more
doaj   +1 more source

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

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

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

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

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

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini, Luca Gallo, Arianna Sala, Enza Maria Valente, Micol Avenali, Silvia Paola Caminiti   +5 more
wiley   +1 more source

Serum phosphorylated tau 217 in variant carriers with and without Parkinson disease

Journal of Parkinson’s Disease
It is unclear whether Alzheimer disease pathology drives cognitive decline in Parkinson disease (PD) patients carrying GBA1 variants. We evaluated levels of serum phosphorylated tau 217 (p-tau217) in samples from 29 GBA1 -PD, 32 idiopathic PD, 20 non ...
Elisa Menozzi, Roxana Mezabrovschi, Aleesa Nazeer, Amelia Anderson, Nadine Loefflad, Amanda J Heslegrave, Elena Veleva, Vlada Drotsevitch, Matthew Gegg, Anthony HV Schapira   +9 more
doaj   +1 more source

Elevation of Stearoyl‐Coenzyme A Desaturase and Monounsaturated Fatty Acids in Parkinson's Disease Serum

Movement Disorders, EarlyView.
Abstract Background Emerging evidence indicates that dysregulation of monounsaturated fatty acids (MUFAs), synthesized by the enzyme stearoyl‐coenzyme A desaturase (SCD), impacts on α‐synuclein pathology in the Parkinson's disease (PD) brain. Objective The objective of this study was to analyze SCD and MUFA‐enriched lipids in the periphery of patients ...
Finula I. Isik, Russell Pickford, Michelle Chua, Simon J.G. Lewis, Nicolas Dzamko, Woojin Scott Kim   +5 more
wiley   +1 more source