Results 81 to 90 of about 2,830 (159)

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

A collection of integration-free iPSCs derived from Parkinson's disease patients carrying mutations in the GBA1 gene

Stem Cell Research, 2019
Mutations in the GBA1 gene, which encodes the lysosomal enzyme Glucocerebrosidase1 are major risk factors for Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
Eva Rodríguez-Traver, Eva Díaz-Guerra, César Rodríguez, Pablo Fernández, Fabián Arenas, Marcos Araúzo-Bravo, María Orera, Jaime Kulisevsky, Rosario Moratalla, Carlos Vicario   +9 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

Development of selective nanomolar cyclic peptide ligands as GBA1 enzyme stabilisers

RSC Chemical Biology
Macrocyclic peptide ligands developed via RaPID technology selectively bind and stabilize rhGBA1 in plasma at nanomolar concentrations without inhibiting endogenous GBA1, offering potential for combinatorial ERT-pharmacological chaperone for Gaucher disease.
Rebecca Katzy, Renier van Neer, Maria Ferraz, Kim Nicolai, Toby Passioura, Hiroaki Suga, Seino Jongkees, Marta Artola   +7 more
openaire   +2 more sources

A Global Perspective of GBA1-Related Parkinson’s Disease: A Narrative Review

Genes
Parkinson’s disease (PD) is considered to be the second most prominent neurodegenerative disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations represent a significant hereditary risk factor for the development of PD and have a profound impact on the motor and cognitive progression of the disease.
Christos Koros, Anastasia Bougea, Ioanna Alefanti, Athina Maria Simitsi, Nikolaos Papagiannakis, Ioanna Pachi, Evangelos Sfikas, Roubina Antonelou, Leonidas Stefanis   +8 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

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

Lewy pathology formation in patient-derived GBA1 Parkinson’s disease midbrain organoids

Brain
Abstract Fibrillary aggregation of α-synuclein in Lewy body inclusions and nigrostriatal dopaminergic neuron degeneration define Parkinson’s disease neuropathology. Mutations in GBA1, encoding glucocerebrosidase, are the most frequent genetic risk factor for Parkinson’s disease.
Frattini, Emanuele, Faustini, Gaia, Lopez, Gianluca, Carsana, Emma V, Tosi, Mattia, Trezzi, Ilaria, Magni, Manuela, Soldà, Giulia, Straniero, Letizia, Facchi, Daniele, Samarani, Maura, Martá-Ariza, Mitchell, De Luca, Chiara M G, Vezzoli, Elena, Pittaro, Alessandra, Stepanyan, Astghik, Silipigni, Rosamaria, Rosety, Isabel, Schwamborn, Jens C, Sardi, Sergio P, Moda, Fabio, Corti, Stefania, Comi, Giacomo P, Blandini, Fabio, Tritsch, Nicolas X, Bortolozzi, Mario, Ferrero, Stefano, Cribiù, Fulvia M, Wisniewski, Thomas, Asselta, Rosanna, Aureli, Massimo, Bellucci, Arianna, Di Fonzo, Alessio   +32 more
openaire   +4 more sources

Efficient GBA1 editing via HDR with ssODNs by outcompeting pseudogene-mediated gene conversion upon CRISPR/Cas9 cleavage

Frontiers in Genome Editing
IntroductionCRISPR/Cas9-edited induced pluripotent stem cells (iPSCs) are valuable research models for mechanistic studies. However, gene conversion between a gene-pseudogene pair that share high sequence identity and form direct repeats in proximity on ...
Joseph S. Lagas, Monica F. Sentmanat, Xiaoxia Cui   +2 more
doaj   +1 more source