Results 31 to 40 of about 2,830 (159)

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

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

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Frontiers in Pediatrics, 2023
Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase).
Qi Liu, Zongrui Shen, Zongrui Shen, Hong Pan, Shunfei Ma, Shunfei Ma, Fu Xiong, Fu Xiong, Fei He, Fei He   +9 more
doaj   +1 more source

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

Clinical and Biological Determinants of Longitudinal Cognitive Function in Patients With GBA1 Variants and Subthalamic Deep Brain Stimulation

Annals of Neurology, EarlyView.
Objective Whether cognitive decline in patients with Parkinson's disease (PD) carrying GBA1 variants is accelerated after subthalamic deep brain stimulation (STN‐DBS) remains controversial. Clarifying long‐term cognitive outcomes is essential for informed decision making.
Moritz A. Loeffler, Philipp Klocke, Isabel Wurster, Stefanie Lerche, Idil Cebi, Thomas Gasser, Alireza Gharabaghi, Kathrin Brockmann, Daniel Weiss   +8 more
wiley   +1 more source

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

Lack of full sequencing GBA1 studies for patients with Parkinson’s disease in Latin America

npj Parkinson's Disease, 2022
Full sequencing of the GBA1 gene in patients with Parkinson’s disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing.
Bruno Lopes Santos-Lobato, Artur F. Schumacher-Schuh, Ignacio F. Mata   +2 more
doaj   +1 more source

The Age at Onset of LRRK2 p.Gly2019Ser Parkinson's Disease Across Ancestries and Countries of Origin

Annals of Neurology, EarlyView.
Objectives The objective of this study was to elucidate differences in the cumulative incidence of Leucine‐rich repeat kinase 2 (LRRK2) p.Gly2019Ser‐related Parkinson's disease (PD; LRRK2‐PD) between ancestries and countries. Methods We included 922 unrelated p.Gly2019Ser variant carriers (affected = 762 and unaffected = 160) from the Global Parkinson ...
Theresa Lüth, Björn‐Hergen Laabs, Sebastian Sendel, Inke R. König, Amke Caliebe, Alastair J. Noyce, Laurel A. Screven, Soraya Bardien, Matthew Farrer, Faycel Hentati, Rim Amouri, Christine Klein, Samia Ben Sassi, Joanne Trinh, Global Parkinson's Genetics Program (GP2)   +14 more
wiley   +1 more source

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

Comparative Analysis of the Incidence, Prevalence, and Survival of 8 Types of Parkinsonism in a Population‐Based Study with 367 Million Person Years of Observation over 21 Years

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Findings are contradictory regarding changes in the incidence and prevalence of Parkinson's disease (PD) over time; data for other parkinsonian disorders are rare. Objectives To analyze temporal trends in the incidence and prevalence of eight parkinsonisms (PD, MSA, PSP, CBS, DLB, vascular parkinsonism, drug‐induced parkinsonism ...
Sacha E. Gandhi, Katherine A. Grosset, Prasanth A. Iruthayaraj, Romel Gravesande, Lance Lee, Cathal Doyle, Yoav Ben‐Shlomo, Donald G. Grosset   +7 more
wiley   +1 more source