Results 91 to 100 of about 3,043 (176)

Dual-Risk axis: mutations and occupational pesticide exposure in Parkinson's disease

Journal of Parkinson’s Disease
Background Occupational pesticide (OcP) exposure and pathogenic GBA1 variants are established risk factors for Parkinson's disease (PD). However, whether they interact to influence disease onset or severity remains uncertain.
Zeynep Hilal Üstündağ, Hazal Özçelik, Ipek Koker, Pınar Özkan, İrem Kar, Buse Elitas Ozmutlu, Elif İpek Gençer Mutlu, Gunal Damla Yildiz, Merve Koç Yekedüz, Fatma Tuba Eminoğlu, M Cenk Akbostancı, Rezzak Yilmaz   +11 more
doaj   +1 more source

Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease

Parkinsonism & Related Disorders
Variants in the GBA1 gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are among the strongest genetic risk factors for Parkinson's disease (PD). While several pathogenic mutations are well-characterized, the impact of many rare or novel variants remains unclear.This study is aimed to explore the spectrum of GBA1 variants in a cohort
Monica Gagliardi, Maurizio Morelli, Gennarina Arabia, Radha Procopio, Alessia Felicetti, Marco D’Amelio, Mariagrazia Talarico, Antonio Gambardella, Andrea Quattrone, Grazia Annesi, Aldo Quattrone   +10 more
openaire   +2 more sources

Generation and Treatment of a Novel Severe Model of Visceral Gaucher Disease by Genetic Therapy

Pharmaceutics
Background/Objectives: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene. Type 1 Gaucher disease is characterised by substrate accumulation in the visceral organs, which occurs in combination ...
Amy F. Geard, Giulia Massaro, Michael P. Hughes, Patrick Arbuthnot, Simon N. Waddington, Ahad A. Rahim   +5 more
doaj   +1 more source

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease [PDF]

Movement Disorders Clinical Practice, 2020
Jonas M. den Heijer, Jacobus J. van Hilten, Anneke J.A. Kievit, Vincenzo Bonifati, Geert Jan Groeneveld   +4 more
openaire   +4 more sources

Parasympathetic Dysfunction Prevails in GBA1‐Associated Parkinson's Disease

Movement Disorders Clinical Practice
AbstractBackgroundThe role played by sympathetic and parasympathetic autonomic branches in patients with Parkinson's disease carrying variants in the GBA1 gene (GBA‐PD) is still elusive.ObjectivesTo characterize cardiovascular autonomic function in GBA‐PD and I‐PD patients with early and mid‐stage disease.MethodsThese assessments were performed ...
Tiziana De Santis, Antoniangela Cocco, Paolo Castiglioni, Maurizio Ferrarin, Rossana Mineri, Emanuela Morenghi, Micol Avenali, Alberto Albanese   +7 more
openaire   +3 more sources

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants

npj Parkinson's Disease
Variants in GBA1 result in dysregulated sphingolipids. We investigated five CSF d18:1 sphingolipid species in a longitudinal multicenter cohort comprising people with Parkinson’s Disease and Dementia with Lewy bodies with and without GBA1 variants and ...
Stefanie Lerche, Isabel Wurster, Enza Maria Valente, Micol Avenali, Daniela Samaniego, Marta Martínez-Vicente, Jorge Hernández-Vara, Ariadna Laguna, Andrea Sturchio, Per Svenningsson, Nicholas P. France, Carrolee Barlow, Sethu Sankaranarayanan, Kathrin Brockmann   +13 more
doaj   +1 more source

Is GBA1 T369M not a risk factor for Parkinson’s disease in the Swedish population?

Abstract Variants in GBA1 are important genetic risk factors in Parkinson’s disease (PD). GBA1 T369M has been linked to an ∼80% increased PD risk but the reports are conflicting and the relevance of GBA1 ...
Kajsa Atterling Brolin, David Bäckström, Joel Wallenius, Ziv Gan-Or, Andreas Puschmann, Oskar Hansson, Maria Swanberg   +6 more
openaire   +2 more sources

GBA1 HDR Donor Vector Assembly v1

This protocol describes the steps to generate GBA1 HDR donor vectors.
openaire   +1 more source

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]

Neurology
Alcalay RN, Mistry P, Di Fonzo A, Batista JL, Bianculli P, Carwile JL, Perichon MG, Balwani M.   +7 more
europepmc   +1 more source

Progression of <i>GBA1</i> severe and risk variants: a longitudinal mixed model analysis. [PDF]

Front Aging Neurosci
Hanff AM, McCrum C, Rauschenberger A, Pachchek S, Aguayo GA, Pauly C, Jónsdóttir SR, Tsurkalenko O, Pauly L, Landoulsi Z, Leist AK, May P, Zeegers MP, Krüger R.   +13 more
europepmc   +1 more source