Results 11 to 20 of about 4,309 (206)

Induced pluripotent stem cell line (INSAi001-A) from a Gaucher disease type 3 patient compound heterozygote for mutations in the GBA1 gene [PDF]

Stem Cell Research, 2019
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases.
Amaral, Olga, Bragança, José, Duarte, Ana Joana, Moreira, Luciana, Ribeiro, Diogo, Santos, Renato   +5 more
core   +6 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   +3 more sources

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   +9 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

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   +4 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   +3 more sources

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   +3 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   +8 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   +3 more sources

Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene

Stem Cell Research, 2019
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
Eva Rodríguez-Traver, César Rodríguez, Eva Díaz-Guerra, Fabián Arenas, Marcos Araúzo-Bravo, María Orera, Jaime Kulisevsky, Rosario Moratalla, Carlos Vicario   +8 more
doaj   +9 more sources