Results 41 to 50 of about 940,251 (149)

Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique

Journal of Inborn Errors of Metabolism and Screening, 2021
Introduction: Gaucher disease (GD) is one of the common lysosomal storage disorder (LSD) with an estimated frequency of one in 40,000 newborns globally.
Félix Pinto, Ema Nassone, Muhammad Ismail, Astrilde Jamisse, Francyne Kubaski, Ana Carolina Brusius-Facchin, Roberto Giugliani, Luís Madeira, Fabíola Fernandes   +8 more
doaj   +1 more source

LIMP-2 Is a Receptor for Lysosomal Mannose-6-Phosphate-Independent Targeting of β-Glucocerebrosidase

, 2007
Summaryβ-glucocerebrosidase, the enzyme defective in Gaucher disease, is targeted to the lysosome independently of the mannose-6-phosphate receptor. Affinity-chromatography experiments revealed that the lysosomal integral membrane protein LIMP-2 is a ...
Edmunds, Tim, Jin, Xiaoying, Blanz, Judith, Reczek, David, Saftig, Paul, Brondyk, William, Hughes, Heather, Van Patten, Scott, Schwake, Michael ; https://orcid.org/, Schröder, Jenny   +9 more
core   +1 more source

Bicyclic isoureas derived from 1-deoxynojirimycin are potent inhibitors of β-glucocerebrosidase [PDF]

, 2016
A series of bicyclic isourea derivatives were prepared from 1-deoxynojirimycin using a concise synthetic protocol proceeding via a guanidino intermediate.
Medicinal Chemistry and Chemical Biology, Sub Biomolecular analysis, Erjavec, Bibi, Martin, Nathaniel I, Martin, N.I., Sevšek, A., Moret, Ed E, Quarles Ufford, L. van, Sub Medicinal Chemistry & Chemical biol., Erjavec, B., Čelan, M., Sastre Toraño, Javier, Čelan, Maša, Sevšek, Alen, Moret, E.E., Quarles van Ufford, Linda, Sastre Toraño, J., Pieters, Roland J, Pieters, R.J   +18 more
core   +1 more source

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

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease. [PDF]

Mov Disord
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Slingerland S, van der Zee S, van Ijzendoorn SCD, Slomp AC, Boertien JM, Meles SK, Kol A, Geerlings M, van Laar T.   +8 more
europepmc   +2 more sources

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

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

Lewy Body–like Inclusions in Human Midbrain Organoids Carrying Glucocerebrosidase and α‐Synuclein Mutations [PDF]

, 2021
Objective We utilized human midbrain-like organoids (hMLOs) generated from human pluripotent stem cells carrying glucocerebrosidase gene (GBA1) and α-synuclein (α-syn; SNCA) perturbations to investigate genotype-to-phenotype relationships in Parkinson ...
Hoang‐Dai Tran, Bin Xiao, Je, Hyunsoo, Jung, Byung, Audrey Tze Ting Khoo, Tzuen Yih Saw, Yu, Weonjin, Je, Hyunsoo Shawn, Lokman, Hidayat, Chang, Ya Yin, Eng‐King Tan, Weonjin Yu, Tran, Hoang-Dai, Wei‐Yi Ong, Saw, Tzuen Yih, Yaw, Lai‐Ping, Tan, Eng-King, Junghyun Jo, Lee, Seung-Jae, Khoo, Audrey Tze Ting, Lim, Kah‐Leong, Ong, Wei‐Yi, Lai‐Ping Yaw, Lim, Kah-Leong, Ng, Huck-Hui, Alfred Xuyang Sun, Hyunsoo Shawn Je, Lim, Grace, Byung Chul Jung, Jung, Byung Chul, Chang, Ya, Lim, Grace Gui Yin, Sun, Alfred Xuyang, Xiao, Bin, Lin Yang, Hidayat Lokman, Khoo, Audrey, Tran, Hoang‐Dai, Kah‐Leong Lim, Ong, Wei-Yi, Jessica Jiaxin Xie, Tan, Eng‐King, Ng, Huck‐Hui, Seung‐Jae Lee, Lee, Seung‐Jae, Grace Gui Yin Lim, Sun, Alfred, Yaw, Lai-Ping, Yang, Lin, Saw, Tzuen, Jo, Junghyun, Xie, Jessica, Xie, Jessica Jiaxin, Huck‐Hui Ng, Ya Yin Chang, Huck‐Hui, Ng, Audrey Tze Ting, Khoo, Weonjin, Yu, Grace Gui Yin, Lim, Lin, Yang, Eng‐King, Tan, Hoang‐Dai, Tran, Junghyun, Jo, Tzuen Yih, Saw, Hyunsoo Shawn, Je, Alfred Xuyang, Sun, Kah‐Leong, Lim, Lai‐Ping, Yaw, Byung Chul, Jung, Hidayat, Lokman, Jessica Jiaxin, Xie, Ya Yin, Chang, Wei‐Yi, Ong, Seung‐Jae, Lee, Bin, Xiao   +74 more
core   +1 more source

Fluorinated Chaperone−β-Cyclodextrin Formulations for β‑Glucocerebrosidase Activity Enhancement in Neuronopathic Gaucher Disease

, 2017
Amphiphilic glycomimetics encompassing a rigid, undistortable nortropane skeleton based on 1,6-anhydro-l-idonojirimycin and a polyfluorinated antenna, when formulated as the corresponding inclusion complexes with β-cyclodextrin (βCD), have been shown to ...
Elena M. Sánchez-Fernández (2358784), Juan M. Benito (1958092), Santos Fustero (1330944), Antonio Díaz-Quintana (1310448), Eiji Nanba (229096), Katsumi Higaki (1776604), Mario de la Mata (3721669), M. Isabel García-Moreno (1991632), José M. García Fernández (1710094), José A. Sánchez-Alcázar (3771826), Carmen Ortiz Mellet (1710091)   +10 more
core   +3 more sources

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