Results 11 to 20 of about 3,185 (196)

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   +4 more sources

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

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   +11 more sources

Deregulation of mTORC1-TFEB axis in human iPSC model of GBA1-associated Parkinson’s disease [PDF]

Frontiers in Neuroscience, 2023
Mutations in the GBA1 gene are the single most frequent genetic risk factor for Parkinson’s disease (PD). Neurodegenerative changes in GBA1-associated PD have been linked to the defective lysosomal clearance of autophagic substrates and aggregate-prone ...
Fahad Mubariz, Afsoon Saadin, Nicholas Lingenfelter, Chinmoy Sarkar, Aditi Banerjee, Marta M. Lipinski, Marta M. Lipinski, Ola Awad   +7 more
doaj   +4 more sources

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

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   +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

The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer [PDF]

Cell Death Discovery
The GBA1 gene encodes the enzyme glucocerebrosidase, which is responsible for lysosomal degradation of the glycosphingolipid glucosylceramide. Biallelic mutations in GBA1 are causative for Gaucher disease, whereas either monoallelic or biallelic ...
Valentina Fantini, Giulia Di Rauso, Valentina Fioravanti, Alessia Ciarrocchi, Francesco Cavallieri, Valentina Sancisi   +5 more
doaj   +2 more sources

Exploring a Role for the Parkinson Disease-Linked GBA1 Gene in Host Responses to Infections

, 2021
Typical Parkinson’s Disease (PD) is a complex disease that arises from a combination of factors including genetics, environment, gene-environment interactions, sex and age. How these factors interact has yet to be elucidated. We have previously published roles for PD-linked genes in response to microbial infections in an effort to model gene ...
Hake-Volling, Quinton
openaire   +3 more sources

NIH Toolbox performance of persons with Parkinson's disease according to GBA1 and STN‐DBS status

Annals of Clinical and Translational Neurology
Objective Mutations in the glucocerebrosidase (GBA1) gene and subthalamic nucleus deep brain stimulation (STN‐DBS) are independently associated with cognitive dysfunction in persons with Parkinson's disease (PwP).
Ahmad Almelegy, Srujanesh Gunda, Steven Buyske, Marc Rosenbaum, Sepehr Sani, Mitra Afshari, Leo V. Metman, Christopher G. Goetz, Deborah Hall, M. Maral Mouradian, Gian Pal   +10 more
doaj   +2 more sources

Molecular characterization of a new deletion of the GBA1 gene due to an inter Alu recombination event

Molecular Genetics and Metabolism, 2011
Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase. More than 300 mutations in the GBA1 gene have been described. However only one large deletion of the GBA1 gene has been reported to date.
Bruno Bembi, Silvia Dominissini, Stefania Zampieri   +2 more
exaly   +5 more sources

Genetic analysis of GBA1 gene in a cohort of patients with Parkinson's disease

Parkinsonism and 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
Radha Procopio, Mónica Gagliardi
exaly   +3 more sources