Results 41 to 50 of about 3,074 (177)

The role of dopamine in the pathogenesis of GBA1-linked Parkinson's disease

Neurobiology of Disease, 2019
Our understanding of the molecular mechanisms underlying differential vulnerability of substantia nigra dopamine neurons in Parkinson's disease (PD) remains limited, and previous therapeutic efforts targeting rodent nigral neurons have not been successfully translated to humans.
Lena F. Burbulla, Dimitri Krainc
openaire   +3 more sources

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

SAA positivity rate amongst dual LRRK2-GBA1, GBA1 and LRRK2 carriers with Parkinson’s disease

ABSTRACT We investigated whether people with Parkinson’s disease who are dual GBA1+LRRK2 carriers have a milder, LRRK2-like phenotype as previously reported. This was accomplished by comparing clinical features and alpha-synuclein seed amplification assay (SAA) positivity rates between dual GBA1+LRRK2-PD(n=13), GBA1-PD(n=169) and LRRK2 ...
Penina Ponger, Anuprita R Nair, Noah S Johnson, Chelsea Caspell-Garcia, David-Erick Lafontant, Roy N Alcalay   +5 more
openaire   +3 more sources

Penetrance of Parkinson’s disease in GBA1 carriers depends on variant severity and polygenic background

npj Parkinson's Disease
Heterozygous GBA1 variants increase Parkinson’s disease (PD) risk with variable penetrance. We investigated the interaction between genome-wide polygenic risk scores (PRS) and severity of pathogenic GBA1 variants (GBA1 PVs) to assess their combined ...
Emadeldin Hassanin, Zied Landoulsi, Sinthuja Pachchek, NCER-PD Consortium, Peter Krawitz, Carlo Maj, Rejko Krüger, Patrick May, Dheeraj Reddy Bobbili   +8 more
doaj   +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

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

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

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

Movement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo, Per Borghammer, Inas Elsayed, Jennifer G. Goldman, Yue Huang, Katja Lohmann, Per Svenningsson, Lorraine V. Kalia, Daniela Berg, Jeffrey H. Kordower, the MDS Scientific Issues Committee   +10 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