Results 121 to 130 of about 7,450 (200)

Glucosylceramide synthase inhibitors differentially affect expression of glycosphingolipids [PDF]

, 2017
Glucosylceramide synthase (GCS) catalyzes the first committed step in the biosynthesis of glucosylceramide (GlcCer)-related glycosphingolipids (GSLs). Although inhibitors of GCS, PPMP and PDMP have been widely used to elucidate their biological function ...
Alam, Shahidul, Fedier, André, Jacob, Francis, Kohler, Reto S.   +3 more
core  

Identification of GB3 as a Novel Biomarker of Tumor-Derived Vasculature in Neuroblastoma Using a Stiffness-Based Model

Cancers
Simple Summary Neuroblastoma (NB), a prevalent childhood cancer, presents challenges in treatment due to its cellular diversity and the presence of tumor-derived endothelial cells (TECs) associated with chemoresistance.
Aranzazu Villasante, Josep Corominas, C. Alcón, Andrea García-Lizarribar, Jaume Mora, Monica Lopez-Fanarraga, Josep Samitier   +6 more
semanticscholar   +1 more source

Impaired plasma membrane calcium ATPase activity and mitochondrial dysfunction contribute to calcium dysregulation in Fabry disease-related painful neuropathy

Neurobiology of Disease
Neuropathic pain is a hallmark symptom in Fabry disease (FD), a hereditary X-linked lysosomal storage disorder caused by a reduced activity of α-galactosidase A (α-Gal A).
Francesco Formaggio, Asia Pizzi, Cecilia Delprete, Davide Pasqualini, Isabella Mataloni, Roberto Rimondini, Ludovica Campolongo, Vincenzo Donadio, Anna Maria Ghelli, Rocco Liguori, Marco Caprini   +10 more
doaj   +1 more source

Gas Phase Infrared Spectroscopy of Glycolipids

, 2019
Carbohydrates and lipids are not only energy sources and structural components of cells but fulfill very diverse and important roles in a multitude of cellular processes. The combination of a carbohydrate and a lipid linked via a glycosidic bond yields a
Kirschbaum, C.
core  

Screening for Fabry Disease (FD) through immunohistochemistry for globotriaosylceramide (Gb3) in patients with segmental and focal glomerular sclerosis lesions and negative immunofluorescence for deposits in renal needle biopsies

, 2022
Rodrigo José Pizzello [UNESP] Zogheib
openalex   +1 more source

Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body [PDF]

, 2016

core   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source

Systemic metabolic reprogramming and microbial dysbiosis in Fabry disease: Multi-omics mechanisms and implications for drug development. [PDF]

Front Pharmacol
Gómez-Cebrián N, Trull MC, Gras-Colomer E, Edo Solsona MD, Poveda Andrés JL, Puchades-Carrasco L.   +5 more
europepmc   +1 more source

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension. [PDF]

Nat Commun
Nordbeck P, Goker-Alpan O, Bernat JA, Germain DP, Giraldo P, Jovanovic A, Kimonis V, Nicholls K, Rockman-Greenberg C, Schiffmann R, Thomas M, Tylki-Szymanska A, Wallace E, Welford RWD, West ML, Clozel M, Frey A, Trokan L, Mueller MS, Vogler M, Wanner C, Hughes D.   +21 more
europepmc   +1 more source

Case Report: Fabry disease presenting with electrocardiographic findings mimicking acute myocardial infarction: a diagnostic challenge. [PDF]

Front Cardiovasc Med
Xie JM, Li Q, Xiao ZQ, Zheng ZJ.
europepmc   +1 more source