Results 81 to 90 of about 3,074 (177)

Generation and characterization of 5 induced pluripotent stem cell (iPSC) lines from Parkinson’s disease patients carrying GBA1 variants

Stem Cell Research
Parkinson’s disease (PD) patients carrying variants in GBA1 exhibit distinct phenotypic characteristics of disease, including earlier age at onset, faster motor decline and higher frequency of cognitive decline.
Inigo Yoldi Bergua, Ibrahim Boussaad, Elizabet Petkovski, Zied Landoulsi, Rejko Krüger, Giuseppe Arena   +5 more
doaj   +1 more source

Male sex accelerates cognitive decline in GBA1 Parkinson’s disease

npj Parkinson's Disease
Abstract We evaluated 128 GBA and 432 nonGBA Parkinson’s disease (PD) subjects. Baseline clinical features and dopaminergic activity were assessed, together with 7-year clinical follow-up. Survival analyses assessed the independent and interactive effects of male sex and GBA1 mutations on cognitive impairment.
Silvia Paola Caminiti, Micol Avenali, Alice Galli, Rachele Malito, Giada Cuconato, Caterina Galandra, Rosaria Calabrese, Andrea Pilotto, Alessandro Padovani, Fabio Blandini, Daniela Perani, Cristina Tassorelli, Enza Maria Valente   +12 more
openaire   +4 more sources

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

GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease

Orphanet Journal of Rare Diseases
Background Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skeletal complications.
Chung-Hsing Wang, Yu‐Nan Huang, Wen-Ling Liao, Ai-Ru Hsieh, Wei-De Lin, Kai-Wen Liu, Wen-Li Lu, Chieh‐Chen Huang, Yin-Hsiu Chien, Ni-Chung Lee, Pen-Hua Su, Fuu-Jen Tsai   +11 more
doaj   +1 more source

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

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
Gagliardi M., Morelli M., Arabia G., Procopio R., Felicetti A., D'Amelio M., Talarico M., Gambardella A., Quattrone A., Annesi G., Quattrone A.   +10 more
openaire   +2 more sources

Variant‐specific effects of GBA1 mutations on dopaminergic neuron proteostasis

Journal of Neurochemistry
AbstractGlucocerebrosidase 1 (GBA1) mutations are the most important genetic risk factors for Parkinson's disease (PD). Clinically, mild (e.g., p.N370S) and severe (e.g., p.L444P and p.D409H) GBA1 mutations have different PD phenotypes, with differences in age at disease onset, progression, and the severity of motor and non‐motor symptoms.
Onal, G, Yalçın‐Çakmaklı, G, Özçelik, CE, Boussaad, I, Şeker, UÖŞ, Fernandes, HJR, Demir, H, Krüger, R, Elibol, B, Dökmeci, S, Salman, MM   +10 more
openaire   +5 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

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