Results 11 to 20 of about 11,713 (255)

Glucocerebrosidase mutations and Parkinson disease

Journal of Neural Transmission, 2022
The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within the research landscape.
Sophia R L Vieira, A. Schapira
semanticscholar   +3 more sources

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency [PDF]

Brain Sciences, 2019
In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped
Emilia M. Gatto, Gustavo Da Prat, Jose Luis Etcheverry, Guillermo Drelichman, Martin Cesarini   +4 more
doaj   +3 more sources

Glucocerebrosidase (GBA; GCase) [PDF]

Science-Business eXchange, 2011

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Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.

Journal of Molecular Biology, 2023
Beta-glucocerebrosidase is a lysosomal hydrolase, encoded by GBA1 that represents the most common risk gene associated with Parkinson's disease (PD) and Lewy Body Dementia. Glucocerebrosidase dysfunction has been also observed in the absence of GBA1 mutations across different genetic and sporadic forms of PD and related disorders, suggesting a broader ...
Diptaman Chatterjee, D. Krainc
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Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism

Nature Communications, 2023
Mutations in GBA1 , the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher’s disease, are the most frequent genetic risk factor for Parkinson’s disease (PD).
Pascale Baden, M. Pérez, Hariam Raji, Federico Bertoli, S. Kalb, M. Illescas, Fokion Spanos, Claudio Giuliano, A. Calogero, Marvin Oldrati, Hannah Hebestreit, G. Cappelletti, K. Brockmann, T. Gasser, A. Schapira, C. Ugalde, M. Deleidi   +16 more
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Mutant glucocerebrosidase impairs α-synuclein degradation by blockade of chaperone-mediated autophagy

Science Advances, 2022
The most common genetic risk factors for Parkinson’s disease (PD) are a set of heterozygous mutant (MT) alleles of the GBA1 gene that encodes β-glucocerebrosidase (GCase), an enzyme normally trafficked through the ER/Golgi apparatus to the lysosomal ...
S. Kuo, I. Tasset, Melody M. Cheng, Antonio Díaz, Ming-Kai Pan, Ori J. Lieberman, S. Hutten, R. Alcalay, Sangjune Kim, P. Ximénez-Embún, Li Fan, Donghoon Kim, H. Ko, T. Yacoubian, E. Kanter, Ling Liu, Guomei Tang, J. Muñoz, S. Sardi, Aiqun Li, Li Gan, A. Cuervo, D. Sulzer   +22 more
semanticscholar   +1 more source

Targeting neuronal lysosomal dysfunction caused by β-glucocerebrosidase deficiency with an enzyme-based brain shuttle construct

Nature Communications, 2023
Mutations in glucocerebrosidase (GCase) cause the lysosomal storage disorder Gaucher’s disease and are the most common risk factor for Parkinson’s disease.
Alexandra Gehrlein, Vinod Udayar, Nadia Anastasi, Martino L. Morella, Iris Ruf, Doris Brugger, Sophia von der Mark, R. Thoma, A. Rufer, Dominik Heer, N. Pfahler, Anton Jochner, J. Niewoehner, Luise Wolf, M. Fueth, M. Ebeling, Roberto Villaseñor, Yanping Zhu, Matthew Deen, X. Shan, Zahra Ehsaei, V. Taylor, E. Sidransky, D. Vocadlo, P. Freskgård, R. Jagasia   +25 more
semanticscholar   +1 more source

A Phase 1B Trial in GBA1‐Associated Parkinson's Disease of BIA‐28‐6156, a Glucocerebrosidase Activator

Movement Disorders, 2023
Loss‐of‐function mutations in the GBA1 gene are one of the most common genetic risk factors for onset of Parkinson's disease and subsequent progression (GBA‐PD).
Jonas M den Heijer, A. Kruithof, M. Moerland, Mike Walker, Lindsay Dudgeon, C. Justman, Imelda Solomini, Leslie Splitalny, N. Leymarie, Kshitij Khatri, Valerie C. Cullen, D. Hilt, G. Groeneveld, Peter Lansbury   +13 more
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Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria

Nature Communications, 2023
β-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting α-synuclein aggregation and autophagy. Recently, Baden and colleagues found GCase in mitochondria, supporting mitochondrial complex I function and energy ...
Andrés D Klein, T. Outeiro
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Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology

npj Parkinson's Disease, 2022
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson’s disease (PD).
Alba Navarro-Romero, I. Fernández-González, Jordi Riera, Marta Montpeyo, Merce Albert-Bayo, Tresa Lopez-Royo, Pablo Castillo-Sanchez, Clara Carnicer-Caceres, J. Arranz-Amo, Laura Castillo-Ribelles, Eddie Pradas, J. Casas, M. Vila, M. Martínez-Vicente   +13 more
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