Results 1 to 10 of about 2,830 (159)

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   +5 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

Synuclein Disorder-Related Genetic Determinants of Mild Behavioural Impairment in a Pre-Clinical Community Cohort. [PDF]

Int J Geriatr Psychiatry
ABSTRACT Background The GBA variant confers increased risk of synuclein disorders but it is unclear what impact it has in pre‐clinical groups. This study aimed to identify early psychiatric and cognitive manifestations amongst pre‐clinical GBA carriers in a community cohort.
Sander-Long M, Creese B, Corbett A, Rosenzweig I, Cummings J, Ballard C.   +5 more
europepmc   +2 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

The genetic architecture of Parkinson’s disease on the Island of Crete [PDF]

npj Parkinson's Disease
We investigated the genetic landscape of Parkinson’s disease (PD) on the island of Crete. DNA samples from 360 PD patients and 251 controls were analyzed using a combination of genotyping, whole-exome sequencing, and targeted screening for GBA1 variants ...
Iro Boura, Shaimaa Sait, Nikolaos M. Marinakis, Kumar Arvind, Ruth Chia, Anindita Ray, Giannis Vatsellas, Theodoros Loupis, Vasiliki Pavlaki, Periklis Makrythanasis, Panayiotis Mitsias, Georgia Xiromerisiou, Sonja W. Scholz, Cleanthe Spanaki   +13 more
doaj   +2 more sources

Exploring the relationship between GBA1 host genotype and gut microbiome in the GBA1L444P/WT mouse model: implications for Parkinson’s disease pathogenesis [PDF]

Frontiers in Neuroscience
BackgroundHeterozygous variants in GBA1 are the commonest genetic risk factor for Parkinson’s disease (PD), but penetrance is incomplete. GBA1 dysfunction can cause gastrointestinal disturbances and microbiome changes in preclinical models.
Elisa Menozzi, Elisa Menozzi, Mallia Geiger, Mallia Geiger, Victoria Meslier, Victoria Meslier, Federico Fierli, Federico Fierli, Marine Gilles, Kai-Yin Chau, Kai-Yin Chau, Aymeric David, Aymeric David, Revi Shahar Golan, Revi Shahar Golan, Alexandre Famechon, Alexandre Famechon, Sofia Koletsi, Sofia Koletsi, Christian Morabito, Christian Morabito, Benoit Quinquis, Benoit Quinquis, Nicolas Pons, Nicolas Pons, Stanislav Dusko Ehrlich, Stanislav Dusko Ehrlich, Jane Macnaughtan, Jane Macnaughtan, Mathieu Almeida, Mathieu Almeida, Anthony HV Schapira, Anthony HV Schapira   +32 more
doaj   +2 more sources

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

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   +1 more source

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   +1 more source

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