Results 21 to 30 of about 4,309 (206)

GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease. [PDF]

Biomedicines
Background/Objectives: Pathogenic variants in the GBA1 gene, which encodes the lysosomal enzyme β-glucocerebrosidase, cause Gaucher disease (GD) and represent one of the strongest genetic risk factors for Parkinson’s disease (PD). However, not all carriers develop PD, suggesting the involvement of additional modifiers. Transcriptomic alterations shared
Liu Y, Luo X, Fleming RMT.
europepmc   +2 more sources

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor. [PDF]

Neurol Sci
Abstract Background The GBA1 gene has been established as a notable risk factor in Parkinson's disease (PD). While some population-specific variants were reported, many regions of the world remain underexplored. This study investigates the prevalence, types, and clinical associations of GBA1 variants in a large cohort
Koç Yekedüz M, Yilmaz R, Abali T, Kibrit SN, Karacan AV, Unutmaz EY, Ayık G, Genç-Batmaz D, Dilek GR, Çelik B, Gemci E, Şahin T, Yalcin A, Ceylaner S, Akbostancı MC, Eminoğlu FT.   +15 more
europepmc   +2 more sources

Polymeric nanoparticle-mediated GBA1 gene therapy is neuroprotective in a preclinical model of Parkinson's disease. [PDF]

Drug Deliv Transl Res
Kwatra M, Kwak G, Li H, Suk JS, Ko HS.
europepmc   +3 more sources

Detection of ER Stress in iPSC-Derived Neurons Carrying the p.N370S Mutation in the GBA1 Gene. [PDF]

Biomedicines
Endoplasmic reticulum (ER) stress is involved in the pathogenesis of many human diseases, such as cancer, type 2 diabetes, kidney disease, atherosclerosis and neurodegenerative diseases, in particular Parkinson’s disease (PD). Since there is currently no treatment for PD, a better understanding of the molecular mechanisms underlying its pathogenesis ...
Yarkova ES, Grigor'eva EV, Medvedev SP, Tarasevich DA, Pavlova SV, Valetdinova KR, Minina JM, Zakian SM, Malakhova AA.   +8 more
europepmc   +4 more sources

Synuclein Disorder-Related Genetic Determinants of Mild Behavioural Impairment in a Pre-Clinical Community Cohort. [PDF]

Int J Geriatr Psychiatry
ABSTRACT Background The GBA variant confers increased risk of synuclein disorders but it is unclear what impact it has in pre‐clinical groups. This study aimed to identify early psychiatric and cognitive manifestations amongst pre‐clinical GBA carriers in a community cohort.
Sander-Long M, Creese B, Corbett A, Rosenzweig I, Cummings J, Ballard C.   +5 more
europepmc   +2 more sources

PR001 gene therapy improved phenotypes in models of Parkinson’s disease with GBA1 mutation [PDF]

Alzheimer's & Dementia, 2020
AbstractBackgroundMutations in GBA1, which result in deficiency of lysosomal enzyme glucocerebrosidase (GCase), are the most common known genetic cause of Parkinson’s disease (PD). Decreased GCase activity in PD patients with GBA1 mutations (PD‐GBA) causes accumulation of glycolipid substrates, which leads to lysosomal dysfunction and neuroinflammation.
Patty Sheehan, Laura D. Heckman, Tim Fenn, Li Chin Wong, Stuart Nelson, Swetha Garimalla, Jorge Haller, Jenn Daily, Jason Politi, Yong Dai, Franz Hefti, Asa Abeliovich   +11 more
openaire   +1 more source

pH‐Responsive Trihydroxylated Piperidines Rescue The Glucocerebrosidase Activity in Human Fibroblasts Bearing The Neuronopathic Gaucher‐Related L444P/L444P Mutations in GBA1 Gene [PDF]

ChemBioChem, 2023
AbstractEngineering bioactive iminosugars with pH‐responsive groups is an emerging approach to develop pharmacological chaperones (PCs) able to improve lysosomal trafficking and enzymatic activity rescue of mutated enzymes. The use of inexpensive l‐malic acid allowed introduction of orthoester units into the lipophilic chain of an enantiomerically pure
Maria Giulia Davighi, Camilla Matassini, Francesca Clemente, Paolo Paoli, Amelia Morrone, Martina Cacciarini, Andrea Goti, Francesca Cardona   +7 more
openaire   +4 more sources

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease [PDF]

, 2016
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
et al,, Fujiwara, Hideji, Ory, Daniel S, Renvoise, Benoit, Sidhu, Rohini   +4 more
core   +8 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

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study

npj Parkinson's Disease, 2023
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized risk factor for Parkinson’s disease (PD). Due to the GBAP1 pseudogene, which shares 96% sequence homology with the GBA1 coding region, accurate variant calling by ...
Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena-Atienza, Caspar Gross, Ann-Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May, Rejko Krüger, on behalf of the NCER-PD Consortium   +11 more
doaj   +1 more source