Results 1 to 10 of about 4,309 (206)

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   +6 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

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

Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials [PDF]

npj Parkinson's Disease
Variants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data.
Elisa Menozzi, Sara Lucas Del Pozo, Jane Macnaughtan, Roxana Mezabrovschi, Sofia Koletsi, Pierfrancesco Mitrotti, Luca Gallo, Rosaria Calabrese, Marco Toffoli, Nadine Loefflad, Franco Valzania, Francesco Cavallieri, Valentina Fioravanti, Selen Yalkic, Naomi Limbachiya, Fabio Blandini, Micol Avenali, Anthony HV Schapira   +17 more
doaj   +2 more sources

Glucocerebrosidase activity, cathepsin D and monomeric α-synuclein interactions in a stem cell derived neuronal model of a PD associated GBA1 mutation [PDF]

Neurobiology of Disease, 2020
The presence of GBA1 gene mutations increases risk for Parkinson's disease (PD), but the pathogenic mechanisms of GBA1 associated PD remain unknown. Given that impaired α-synuclein turnover is a hallmark of PD pathogenesis and cathepsin D is a key enzyme
Shi-yu Yang, Matthew Gegg, David Chau, Anthony Schapira   +3 more
doaj   +3 more sources

Multi-omics insights into GBA1-associated Parkinson’s disease: interplay of genomics, transcriptomics, proteomics, and lipidomics [PDF]

Molecular Neurodegeneration
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder worldwide. The pathogenesis of PD is driven by multifactorial mechanisms involving a complex interplay among environmental exposures, genetic susceptibility, and aging ...
Yang Ni, Huaibin Cai, Yaping Shao, Weidong Le   +3 more
doaj   +2 more sources

Synaptic dysfunction and extracellular matrix dysregulation in dopaminergic neurons from sporadic and E326K-GBA1 Parkinson’s disease patients [PDF]

npj Parkinson's Disease
Parkinson’s disease (PD) is a neurodegenerative disease with both genetic and sporadic origins. In this study, we investigated the electrophysiological properties, synaptic activity, and gene expression differences in dopaminergic (DA) neurons derived ...
Idan Rosh, Utkarsh Tripathi, Yara Hussein, Wote Amelo Rike, Jose Djamus, Boris Shklyar, Andreea Manole, Henry Houlden, Jurgen Winkler, Fred H. Gage, Shani Stern   +10 more
doaj   +2 more sources

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. [PDF]

, 2016
Glucocerebrosidase (GBA1) gene mutations increase the risk of Parkinson disease (PD). While the cellular mechanisms associating GBA1 mutations and PD are unknown, loss of the glucocerebrosidase enzyme (GCase) activity, inhibition of autophagy and ...
Doherty, MK, Gegg, ME, Magalhaes, J, Migdalska-Richards, A, Schapira, AH, Whitfield, PD   +5 more
core   +9 more sources

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

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   +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