Results 1 to 10 of about 4,639 (191)

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 Smith, Elisa Menozzi
exaly   +5 more sources

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   +2 more sources

GBA1 in Parkinson’s disease: variant detection and pathogenicity scoring matters

BMC Genomics, 2023
Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood.
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh   +7 more
doaj   +4 more sources

mTOR Inhibition Drives Mutation-Specific Remodeling of Lysosomal and Autophagic Pathways and GCase Activity in PBMC-Derived Macrophages from Patients with GBA1-Associated Parkinson’s Disease [PDF]

Current Issues in Molecular Biology
To date, we and others have demonstrated that GBA1-associated Parkinson’s disease (GBA1-PD) exhibits hyperactivation of mTOR and impairment of mTOR-regulated autophagy. Our previous study showed that the degree of autophagy impairment depends on the type
Anastasia Bezrukova, Katerina Basharova, Anton Emelyanov, Anna Lavrinova, Anna Krapova, Ekaterina Galkina, Ekaterina Skudarnova, Galina Baydakova, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina, Tatiana Usenko   +11 more
doaj   +2 more sources

Lysine acetyltransferase 8-mediated histone acetylation, regulated by GBA1, is associated with lysosomal function related to α-Synuclein pathology [PDF]

Cell Death and Disease
Lysosomal defects are closely linked to Parkinson’s disease (PD). Mutations in the GBA1 gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), are major genetic risk factors for PD.
Yifan Cao, Zhixiong Zhang, Xinbei Gu, Haifeng Lu, Jin Wu, Chuang Zhang, Xinyue Huang, Haitao Qin, Feng Liu, Zhenhua Liu, Beisha Tang, Xiaojun Lu, Haigang Ren, Hongyang Sun, Rui Wang, Guanghui Wang   +15 more
doaj   +2 more sources

Targeting lysosomal pH restores mitochondrial quality control in GBA1-mutant Parkinson’s disease [PDF]

Translational Neurodegeneration
Background Heterozygous mutations in the glucocerebrosidase gene (GBA1), which encodes the lysosomal enzyme β-glucocerebrosidase (GCase), are a genetic risk factor for Parkinson’s disease (PD).
Preethi Sheshadri, Maria Alicia Costa-Besada, Alessia Fisher, Szilvia Kiraly, Kritarth Singh, Ioanna Kourouzidou, Thomas S. Blacker, Jialiu Zeng, Orian S. Shirihai, Mark W. Grinstaff, Michael R. Duchen   +10 more
doaj   +2 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

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson’s disease

npj Parkinson's Disease, 2023
GBA1 variants are important risk factors for Parkinson’s disease (PD). Most studies assessing GBA1-related PD risk have been performed in European-derived populations.
Yangjie Zhou, Yige Wang, Juan Wan, Yuwen Zhao, Hongxu Pan, Qian Zeng, Xun Zhou, Runcheng He, Xiaoxia Zhou, Yaqin Xiang, Zhou Zhou, Bin Chen, Qiying Sun, Qian Xu, Jieqiong Tan, Lu Shen, Hong Jiang, Xinxiang Yan, Jinchen Li, Jifeng Guo, Beisha Tang, Heng Wu, Zhenhua Liu   +22 more
doaj   +1 more source

Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.

PLoS ONE, 2021
Multiple mutations have been described in the human GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase) that degrades glucosylceramide and is pivotal in glycosphingolipid substrate metabolism.
Nicole K Polinski, Terina N Martinez, Alexander Gorodinsky, Ralph Gareus, Michael Sasner, Mark Herberth, Robert Switzer, Syed O Ahmad, Mali Cosden, Monika Kandebo, Robert E Drolet, Peter D Buckett, Weisong Shan, Yi Chen, Lee J Pellegrino, Gregory D Ellsworth, Leo B Dungan, Warren D Hirst, Sean W Clark, Kuldip D Dave   +19 more
doaj   +1 more source

Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life

Frontiers in Neuroscience, 2023
ObjectivesMutations in glucocerebrosidase (GBA1) can change the clinical phenotype of Parkinson’s disease (PD). This study aimed to explore the clinical characteristics of freezing of gait (FOG) in PD patients with GBA1 mutations.MethodsA whole-exome ...
Ruwei Ou, Chunyu Li, Qianqian Wei, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Yangfan Cheng, Yanbing Hou, Lingyu Zhang, Wei Song, Xueping Chen, Xiaohui Lai, Huifang Shang   +14 more
doaj   +1 more source