Results 131 to 140 of about 11,713 (255)

Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity [PDF]

, 2023
Tatiana Usenko, Anastasia Bezrukova, Margarita M. Rudenok, Katerina Basharova, М. И. Шадрина, P. A. Slominsky, Ekaterina Zakharova, Sofya Pchelina   +7 more
openalex   +1 more source

Neurosteroid Levels in GBA Mutated and Non-Mutated Parkinson’s Disease: A Possible Factor Influencing Clinical Phenotype?

Biomolecules
Neurosteroids are pleiotropic molecules involved in various neurodegenerative diseases with neuroinflammation. We assessed neurosteroids’ serum levels in a cohort of Parkinson’s Disease (PD) patients with heterozygous glucocerebrosidase (GBA) mutations ...
Francesco Cavallieri, Chiara Lucchi, Sara Grisanti, Edoardo Monfrini, Valentina Fioravanti, Giulia Toschi, Giulia Di Rauso, Jessica Rossi, Alessio Di Fonzo, Giuseppe Biagini, Franco Valzania   +10 more
doaj   +1 more source

Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning

Proceedings of the National Academy of Sciences of the United States of America, 2019
Significance Gaucher disease is a rare genetic disorder that has crippling health consequences. Mutations in the GBA1 gene are known to disrupt the enzyme glucocerebrosidase-1, but it is not known, at atom-level detail, as to how enzyme function is lost.
R. Romero, A. Ramanathan, T. Yuen, D. Bhowmik, Mehr Mathew, L. Munshi, Seher Javaid, Madison Bloch, Daria Lizneva, Alina E. Rahimova, Ayesha Khan, Charit Taneja, Se-Min Kim, Li Sun, M. New, S. Haider, M. Zaidi   +16 more
semanticscholar   +1 more source

Selective Targeting of the Interconversion between Glucosylceramide and Ceramide by Scaffold Tailoring of Iminosugar Inhibitors

Molecules, 2019
A series of simple C-alkyl pyrrolidines already known as cytotoxic inhibitors of ceramide glucosylation in melanoma cells can be converted into their corresponding 6-membered analogues by means of a simple ring expansion.
Cécile Baudoin-Dehoux, Tessa Castellan, Frédéric Rodriguez, Arnaud Rives, Fabien Stauffert, Virginie Garcia, Thierry Levade, Philippe Compain, Yves Génisson   +8 more
doaj   +1 more source

Glucocerebrosidase as a therapeutic target for Parkinson’s disease

, 2020
Yu Chen, Richard Sam, Pankaj Sharma, Lu Chen, Jenny Do, Ellen Sidransky   +5 more
openalex   +2 more sources

Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice [PDF]

, 2015
Emily M. Rocha, Gaynor A. Smith, Eric Park, Hongmei Cao, Anne-Renee Graham, Eilish Brown, Jesse R. McLean, Melissa A. Hayes, Jonathan A. Beagan, Sarah C. Izen, Eduardo Pérez-Torres, Penelope J. Hallett, Ole Isacson   +12 more
openalex   +1 more source

Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments

Neurobiology of Disease, 2022
Matthew E Gegg, E. Menozzi, A. Schapira
semanticscholar   +1 more source

Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction

Molecules
Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcCer).
Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai   +10 more
doaj   +1 more source

34. Augmenting CNS Glucocerebrosidase Activity as a Therapeutic Strategy for Parkinsonism and Other Gaucher-Related Synucleinopathies [PDF]

, 2013

openalex   +1 more source

In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools [PDF]

, 2014
Madhumathi Manickam, Palaniyandi Ravanan, Pratibha Singh, Priti Talwar   +3 more
openalex   +1 more source