Results 41 to 50 of about 10,389 (214)

Probing the Inhibitor versus Chaperone Properties of sp2-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease

Molecules, 2018
A series of sp2-iminosugar glycomimetics differing in the reducing or nonreducing character, the configurational pattern (d-gluco or l-ido), the architecture of the glycone skeleton, and the nature of the nonglycone substituent has been synthesized and ...
Teresa Mena-Barragán, M. Isabel García-Moreno, Alen Sevšek, Tetsuya Okazaki, Eiji Nanba, Katsumi Higaki, Nathaniel I. Martin, Roland J. Pieters, José M. García Fernández, Carmen Ortiz Mellet   +9 more
doaj   +1 more source

Fluorinated Iminosugar Glycomimetics: Synthesis and Activity as GCase Ligands

European Journal of Organic Chemistry, EarlyView.
DAST‐mediated deoxyfluorination of suitably functionalized piperidines provided regio‐ and stereoselective access to fluorinated piperidine and pyrrolidine glycomimetics, the latter arising from an unusual ring‐contraction process. Fluorination generally enhanced β‐glucocerebrosidase (GCase) inhibitory potency, but lost PC activity toward L444P/L444P ...
Francesca Mangiavacchi, Alessio Morano, Cosimo Margheri, Cristina Faggi, Amelia Morrone, Camilla Matassini, Francesca Clemente, Andrea Goti, Martina Cacciarini, Francesca Cardona   +9 more
wiley   +1 more source

Photoswitchable inhibitors of human β-glucocerebrosidase [PDF]

, 2022
Light-switchable inhibitors of the enzyme β-glucocerebrosidase (GCase) have been developed by anchoring a specific azasugar to a dihydroazulene or an azobenzene responsive moiety.
Davighi, Maria Giulia, Goti, Andrea, Paoli, Paolo, Clemente, Francesca, Morrone, Amelia, Cardona, Francesca, Matassini, Camilla, Nielsen, Mogens Brøndsted, Cacciarini, Martina, Martina Cacciarini, Francesca Cardona, Mogens Brøndsted Nielsen, Paolo Paoli, Andrea Goti, Amelia Morrone, Francesca Clemente, Maria Giulia Davighi, Camilla Matassini   +17 more
core   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Glucocerebrosidase Mutations in Parkinson Disease

Journal of Parkinson's Disease, 2017
Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD.
Ruth-Mary deSouza, Anthony H.V. Schapira, Roberta Balestrino, Grace C. O'Regan   +3 more
openaire   +4 more sources

Peripheral neuropathy in a mouse model lacking GBA1 in Schwann cells

Neurobiology of Disease
Peripheral neuropathic symptoms have been reported in Gaucher disease (GD), a rare lysosomal storage disorder caused by mutations in β-glucocerebrosidase gene (GBA1), albeit poorly investigated only in clinical settings.To shed light on the involvement ...
Loris Russo, Ilaria Gregorio, Samuele Negro, Dario Bizzotto, Alireza Jorkesh, Paola Braghetta, Enrico Moro, Aram Megighian, Matilde Cescon   +8 more
doaj   +1 more source

The Effect of LRRK2 and GBA1 Mutations on Survival in Early‐ and Late‐Onset Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Mutations in the glucocerebrosidase 1 (GBA1) and leucine‐rich repeat kinase 2 (LRRK2) genes are associated with Parkinson's disease (PD) phenotype. Objective To asses the contribution of genetic status to long‐term survival of patients with PD.
Raz Rubin, Roy N. Alcalay, Nurit Omer, Orly Goldstein, Mali Gana Weisz, Anat Mirelman, Avner Thaler   +6 more
wiley   +1 more source

Ambroxol effects in glucocerebrosidase and α‐synuclein transgenic mice

, 2016
International audienceGaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Migdalska-Richards, Anna, Schapira, Anthony H V, Anna Migdalska‐Richards, Daly, Liam, Bezard, Erwan, Anthony H. V. Schapira, Liam Daly, Erwan Bezard   +7 more
core   +1 more source

GBA1 inactivation in oligodendrocytes affects myelination and induces neurodegenerative hallmarks and lipid dyshomeostasis in mice

Molecular Neurodegeneration
Background Mutations in the β-glucocerebrosidase (GBA1) gene do cause the lysosomal storage Gaucher disease (GD) and are among the most frequent genetic risk factors for Parkinson’s disease (PD).
Ilaria Gregorio, Loris Russo, Enrica Torretta, Pietro Barbacini, Gabriella Contarini, Giada Pacinelli, Dario Bizzotto, Manuela Moriggi, Paola Braghetta, Francesco Papaleo, Cecilia Gelfi, Enrico Moro, Matilde Cescon   +12 more
doaj   +1 more source