Results 31 to 40 of about 3,185 (196)

A PheWAS approach to identify associations of GBA1 variants with comprehensive phenotypes beyond neurological diseases

npj Parkinson's Disease
Given the established association between numerous GBA1 variants and specific neurological diseases, we extended the exploration by a phenome-wide association study to assess the impact of GBA1 variants on a wider spectrum of health-related traits.
Jiaqi Yang, Yuanfeng Huang, Zheng Wang, Shiyu Zhang, Dai Wu, Jiayi Xiong, Heng Wu, Yijing Wang, Qiao Zhou, Yixiao Zhu, Guihu Zhao, Bin Li, Jifeng Guo, Kun Xia, Beisha Tang, Jinchen Li   +15 more
doaj   +2 more sources

Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study [PDF]

, 2023
BACKGROUND: Variants in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD). They are also risk factors for Parkinson's disease (PD), and modify the expression of the PD phenotype.
Moreno-Martinez, D., Menozzi, E, Jeffries, Aaron R., Moreno-Martinez, D, Hughes, D., Koletsi, Sofia, Jesuthasan, A., Moreno-Martinez, David, Schapira, A. H. V., Limbachiya, N, Chohan, H, Higgins, A., Hughes, Derralynn, Loefflad, N., Menozzi, E., Lucas-Del-Pozo, S., Proukakis, Christos, Rahall, Soraya, Loefflad, Nadine, Schapira, Anthony H.V., Lee-Yin, C, Bestwick, Jonathan, Koletsi, S., Colclough, K, Mezabrovschi, R, Schrag, A., Lucas-Del-Pozo, S, Limbachiya, N., Mullin, S, Jeffries, AR, Rahall, S, Colclough, K., Fierli, F., Toffoli, Marco, Higgins, A, Jeffries, A. R., Menozzi, Elisa, Noyce, Alastair, Rahall, S., Toffoli, M, Higgins, Abigail, Loefflad, N, Farbos, A., Mullin, Stephen, Yalkic, Selen, Mullin, S., Lee-Yin, C., Hughes, D, Mezabrovschi, Roxana, Bestwick, J, Schapira, AHV, Yalkic, S., Chohan, Harneek, Schrag, Anette, Proukakis, C, Bestwick, J., Limbachiya, Naomi, Farbos, A, Lucas-Del-Pozo, Sara, Colclough, Kevin, Koletsi, S, Jesuthasan, Aaron, Proukakis, C., Fierli, F, Schrag, A, Yalkic, S, Farbos, Audrey, Noyce, A, Noyce, A., Toffoli, M., Fierli, Federico, Chohan, H., Lee-Yin, Chiao, Jesuthasan, A, Mezabrovschi, R.   +74 more
core   +3 more sources

Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration. [PDF]

Mol Neurodegener
Gu M, Zhao J, Deng M, Lin G, Pan X, Lin W, Ma M, Kim J, Byeon SK, Pandey A, Lange LM, Shaw CA, Kim J, Trinh J, Klein C, Kanca O, Shulman JM, Bellen HJ.   +17 more
europepmc   +3 more sources

PR001 gene therapy improved phenotypes in models of Parkinson’s disease with GBA1 mutation [PDF]

Alzheimer's & Dementia, 2020
AbstractBackgroundMutations in GBA1, which result in deficiency of lysosomal enzyme glucocerebrosidase (GCase), are the most common known genetic cause of Parkinson’s disease (PD). Decreased GCase activity in PD patients with GBA1 mutations (PD‐GBA) causes accumulation of glycolipid substrates, which leads to lysosomal dysfunction and neuroinflammation.
Patty Sheehan, Laura D. Heckman, Tim Fenn, Li Chin Wong, Stuart Nelson, Swetha Garimalla, Jorge Haller, Jenn Daily, Jason Politi, Yong Dai, Franz Hefti, Asa Abeliovich   +11 more
openaire   +1 more source

Table1_Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation.docx

, 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
Na Li (6550), Jin Zhang (53297), Duan Ma (40293), Ming Guan (126815), Nan Jiang (21252), Jia-ni Guo (12696950), Ya-jun Li (12696953)   +6 more
core   +1 more source

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

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   +1 more source

Lack of full sequencing GBA1 studies for patients with Parkinson’s disease in Latin America

npj Parkinson's Disease, 2022
Full sequencing of the GBA1 gene in patients with Parkinson’s disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing.
Bruno Lopes Santos-Lobato, Artur F. Schumacher-Schuh, Ignacio F. Mata   +2 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

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   +1 more source

and The Immune System: A Potential Role in Parkinson’s Disease?

Journal of Parkinson’s Disease, 2022
It is clear that the immune system and inflammation have a role in Parkinson’s disease (PD), including sporadic PD and some genetic forms such as LRRK2 -associated PD.
Zaid A.M. Al-Azzawi, Saman Arfaie, Ziv Gan-Or   +2 more
doaj   +1 more source