Results 31 to 40 of about 2,680 (134)

Generation and characterization of induced pluripotent stem cells from a Parkinson’s disease patient carrying the digenic LRRK2 p.G2019S and GBA1 p.N409S mutations

Stem Cell Research, 2023
We describe an induced pluripotent stem cell (iPSC) line that was derived from fibroblasts obtained from a Parkinson’s disease (PD) patient carrying the p.G2019S mutation in the LRRK2 gene and the p.N409S mutation in the GBA1 gene.
Christiane Oleksy, François Massart, Stefano Goldwurm, Alessia Arado, Giuseppe Arena, Ibrahim Boussaad, Rejko Krüger   +6 more
doaj   +1 more source

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

GBA1 Thr408Met mutation in a patient with Parkinson’s disease

Zhongguo Linchuang Yixue
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing ...
Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI   +6 more
doaj   +1 more source

False negatives in GBA1 sequencing due to polymerase dependent allelic imbalance

Scientific Reports, 2021
A variant in the GBA1 gene is one of the most common genetic risk factors to develop Parkinson’s disease (PD). Here the serendipitous finding is reported of a polymerase dependent allelic imbalance when using next generation sequencing, potentially ...
Jonas M. den Heijer, Arnoud Schmitz, Peter Lansbury, Valerie C. Cullen, Dana C. Hilt, Vincenzo Bonifati, Geert Jan Groeneveld   +6 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

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +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

The GBA1 D409V mutation exacerbates synuclein pathology to differing extents in two alpha-synuclein models

Disease Models & Mechanisms, 2022
Heterozygous mutations in the GBA1 gene – encoding lysosomal glucocerebrosidase (GCase) – are the most common genetic risk factors for Parkinson's disease (PD).
Nicole K. Polinski, Terina N. Martinez, Sylvie Ramboz, Michael Sasner, Mark Herberth, Robert Switzer, Syed O. Ahmad, Lee J. Pelligrino, Sean W. Clark, Jacob N. Marcus, Sean M. Smith, Kuldip D. Dave, Mark A. Frasier   +12 more
doaj   +1 more source

The Global Parkinson's Disease Genetics (GP2) Genome Browser

Movement Disorders, EarlyView.
Abstract Background Large‐scale sequencing initiatives have generated extensive genomic resources essential for variant interpretation, yet their effective use often requires bioinformatics expertise. To support identification of Parkinson's disease (PD) risk and disease‐causing variants, we developed an open‐access, summary‐level genomic data browser.
Zih‐Hua Fang, Riley H. Grant, Dan Vitale, Carlos F. Hernandez, Samantha Hong, Hampton L. Leonard, Mary B. Makarious, Lara M. Lange, Matthew Solomonson, Peter Heutink, Allison A. Dilliott, Kamalini Ghosh Galvelis, Mike A. Nalls, Andrew B. Singleton, Cornelis Blauwendraat, the Global Parkinson's Genetics Program (GP2)   +15 more
wiley   +1 more source

Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers [PDF]

Анналы клинической и экспериментальной неврологии
Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in the
Anton K. Emelyanov, Tatiana S. Usenko, Alena E. Kopytova, Irina V. Miliukhina, Alla A. Timofeeva, Anastasia I. Bezrukova, Darya G. Kulabukhova, Galina V. Baydakova, Mikhail A. Nikolaev, Anna O. Lavrinova, Anastasia V. Kudrevatykh, Alexander S. Zhuravlev, Ekaterina Yu. Zakharova, Sofya N. Pchelina   +13 more
doaj   +1 more source