Results 41 to 50 of about 3,185 (196)

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

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

Ambroxol reverses tau and α-synuclein accumulation in a cholinergic N370S GBA1 mutation model [PDF]

, 2022
Cognitive impairment is a common non-motor complication of Parkinson disease (PD). Glucocerebrosidase gene (GBA1) variants are found in 10–15% of PD cases and are numerically the most important risk factor for PD and dementia with Lewy bodies ...
Gegg, Matthew, Yang, Shi Yu, Schapira, Anthony H V, Taanman, Jan-Willem, Schapira, Anthony HV   +4 more
core   +1 more source

Autophagic dysfunction and gut microbiota dysbiosis cause chronic immune activation in a Drosophila model of Gaucher disease.

PLoS Genetics, 2023
Mutations in the GBA1 gene cause the lysosomal storage disorder Gaucher disease (GD) and are the greatest known genetic risk factors for Parkinson's disease (PD).
Magda L Atilano, Alexander Hull, Catalina-Andreea Romila, Mirjam L Adams, Jacob Wildfire, Enric Ureña, Miranda Dyson, Jorge Ivan-Castillo-Quan, Linda Partridge, Kerri J Kinghorn   +9 more
doaj   +1 more source

Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease [PDF]

Introduction: Gaucher's disease (GD) is caused by biallelic mutations in the GBA1 gene, leading to reduced glucocerebrosidase (GCase) activity and substrate (glucosylceramide and glucosylsphingosine, GlcSph) accumulation.
Di Vico, Ilaria, Duro, Giovanni, Bentivoglio, Anna Rita, Zibetti, Maurizio, Cavallieri, Francesco, Erro, Roberto, Fabbrini, Giovanni, Bonato, Giulia, Spagnolo, Francesca, Mostile, Giovanni, Zizzo, Carmela, Colucci, Fabiana, Marano, Massimo, Cilia, Roberto, Schirinzi, Tommaso, Di Lazzaro, Vincenzo, Tessitore, Alessandro, Carecchio, Miryam, Di Fonzo, Alessio, De Micco, Rosa, Arabia, Gennarina, Tinazzi, Michele, Cossu, Giovanni, Bovenzi, Roberta, Ramat, Silvia, Sorrentino, Cristiano, Pilotto, Andrea, Tambasco, Nicola, Lupini, Alessandro, Manganotti, Paolo, Ceravolo, Maria Gabriella, Malaguti, Maria Chiara, Caputo, Elena, Tamma, Filippo, Modugno, Nicola, Zappia, Mario, Bacchin, Ruggero, Valzania, Franco, Sucapane, Patrizia, Magliozzi, Alessandro   +39 more
core   +4 more sources

A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene

npj Parkinson's Disease, 2023
Several heterozygous variants of the glucocerebrosidase gene (GBA1) have been reported to increase the risk of Parkinson’s disease (PD) and dementia with Lewy bodies (DLB).
Jussi O. T. Sipilä, Laura Kytövuori, Tuomas Rauramaa, Hugo Rauhamaa, Valtteri Kaasinen, Kari Majamaa   +5 more
doaj   +1 more source

Exploring the link between GBA1 mutations and Dementia with Lewy bodies, A mini-review [PDF]

, 2022
Importance: Dementia with Lewy bodies (DLB) is a neurodegenerative disease linked to abnormal accumulation of phosphorylated α-synuclein. GBA1 is the gene encoding the lysosomal enzyme glucocerebrosidase (GCase), whose mutations are a risk factor of DLB.
Franco, M, Hugon, J, Amar-Bouaziz, E, Franco, Mélanie, Hourregue, C, Hugon, Jacques, Paquet, C, Mouton-Liger, F, Gaubert, S, Paquet, Claire, Aarsland, D,, Gaubert, Sinead, Millot, P, Amar-Bouaziz, Elodie, Mouton-Liger, François, Hourregue, Claire, Millot, Périne, Aarsland, Dag; id_orcid   +17 more
core   +1 more source

Targeting the GBA1 pathway to slow Parkinson disease: Insights into clinical aspects, pathogenic mechanisms and new therapeutic avenues [PDF]

, 2023
The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease (GD), a lysosomal storage disorder characterised by loss of GCase activity and aberrant ...
Menozzi, E, Schapira, AHV, Toffoli, M
core  

Dermal Phospho-Alpha-Synuclein Deposition in Patients With Parkinson's Disease and Mutation of the Glucocerebrosidase Gene

Frontiers in Neurology, 2018
Heterozygous mutations in the glucocerebrosidase gene (GBA1) represent the most common genetic risk factor for Parkinson's disease (PD) and are histopathologically associated with a widespread load of alpha-synuclein in the brain.
Kathrin Doppler, Kathrin Brockmann, Annahita Sedghi, Isabel Wurster, Jens Volkmann, Wolfgang H. Oertel, Claudia Sommer   +6 more
doaj   +1 more source

GBA genotype-Parkinson’s phenotype correlation in a cohort of 252 Italian patients from the Tuscany region

Clinical Parkinsonism & Related Disorders
Introduction: heterozygous mutations in the glucocerebrosidase gene (GBA1), encoding the lysosomal enzyme β-glucocerebrosidase (GCase) are the most common genetic risk factor for Parkinson’s disease (PD).
Rodolfo Tonin, Silvia Ramat, Marina Rinaldi, Silvia Falliano, Federica Feo, Francesca Cardona, Camilla Matassini, Guido Mannaioni, Giulia Grigioni, Luca Caremani, Alessandra Govoni, Maria Luisa Della Bona, Giancarlo la Marca, Renzo Guerrini, Amelia Morrone   +14 more
doaj   +1 more source