Results 1 to 10 of about 3,185 (196)

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease [PDF]

Frontiers in Neurology, 2022
Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and autophagic pathways, with the GBA1 gene encoding for the lysosomal enzyme ...
Laura J. Smith, Laura J. Smith, Chiao-Yin Lee, Chiao-Yin Lee, Elisa Menozzi, Elisa Menozzi, Anthony H. V. Schapira, Anthony H. V. Schapira   +7 more
doaj   +7 more sources

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands. [PDF]

Mov Disord, 2020
AbstractBackgroundThe most common genetic risk factor for Parkinson's disease known is a damaging variant in the GBA1 gene. The entire GBA1 gene has rarely been studied in a large cohort from a single population. The objective of this study was to assess the entire GBA1 gene in Parkinson's disease from a single large population.MethodsThe GBA1 gene was
den Heijer JM, Cullen VC, Quadri M, Schmitz A, Hilt DC, Lansbury P, Berendse HW, van de Berg WDJ, de Bie RMA, Boertien JM, Boon AJW, Contarino MF, van Hilten JJ, Hoff JI, van Mierlo T, Munts AG, van der Plas AA, Ponsen MM, Baas F, Majoor-Krakauer D, Bonifati V, van Laar T, Groeneveld GJ.   +22 more
europepmc   +10 more sources

GBA1 Gene Mutations in α-Synucleinopathies-Molecular Mechanisms Underlying Pathology and Their Clinical Significance. [PDF]

Int J Mol Sci, 2023
α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by altered accumulation of a protein called α-synuclein inside neurons and glial cells. This aggregation leads to the formation of intraneuronal inclusions, Lewy bodies, that constitute the hallmark of α-synuclein pathology.
Granek Z, Barczuk J, Siwecka N, Rozpędek-Kamińska W, Kucharska E, Majsterek I.   +5 more
europepmc   +4 more sources

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation [PDF]

Frontiers in Genetics, 2022
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and
Jia-ni Guo, Jia-ni Guo, Ming Guan, Nan Jiang, Na Li, Ya-jun Li, Jin Zhang, Duan Ma, Duan Ma   +8 more
doaj   +4 more sources

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

Neurological Sciences
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
R Yilmaz, Ceylaner Serdar, Eminoglu Fatma Tuba   +2 more
exaly   +4 more sources

Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes [PDF]

Frontiers in Neuroanatomy, 2018
Gaucher’s disease (GD) is the most prevalent lysosomal storage disorder. GD is caused by homozygous mutations of the GBA1 gene, which codes for beta-glucocerebrosidase (GCase).
Rafael Franco, Rafael Franco, Juan A. Sánchez-Arias, Gemma Navarro, Gemma Navarro, Gemma Navarro, José L. Lanciego, José L. Lanciego, José L. Lanciego   +8 more
doaj   +6 more sources

The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene

Journal of Integrative Neuroscience
Background: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich repeat kinase 2 (LRRK2), respectively, are the most common related to Parkinson’s
Tatiana S. Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina   +10 more
doaj   +5 more sources

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene. [PDF]

Front Pediatr, 2023
Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). Here, we report a patient with GD who carried the heterozygous c.1240G > C (p.Val414Leu) mutation and the heterozygous pathogenic c.1342G > C (p.Asp448His) mutation in ...
Liu Q, Shen Z, Pan H, Ma S, Xiong F, He F.   +5 more
europepmc   +4 more sources

Gene Therapy for Parkinson’s Disease Associated with Mutations

Journal of Parkinson’s Disease, 2021
Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkinson’s disease.
Asa Abeliovich, Franz Hefti, Jeffrey Sevigny   +2 more
doaj   +4 more sources

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   +4 more sources