Results 11 to 20 of about 3,830 (166)

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice [PDF]

Journal of Lipid Research, 2011
The aim of our study was to measure globotriaosylceramide (Gb3) and lyso-Gb3 levels by tandem mass spectrometry in the urine and kidney in Fabry (gla knockout) mice and wild-type controls.
Brandon Durant, Sabrina Forni, Lawrence Sweetman, Nastry Brignol, Xing-Li Meng, Elfrida R. Benjamin, Raphael Schiffmann, Jin-Song Shen   +7 more
doaj   +3 more sources

Role of Globotriaosylceramide in Physiology and Pathology

Frontiers in Molecular Biosciences, 2022
At first glance, the biological function of globoside (Gb) clusters appears to be that of glycosphingolipid (GSL) receptors for bacterial toxins that mediate host-pathogen interaction.
Ana Beatriz Celi, Ana Beatriz Celi, Jorge Goldstein, Jorge Goldstein, María Victoria Rosato-Siri, Alipio Pinto, Alipio Pinto   +6 more
doaj   +4 more sources

Carbon-13 nuclear magnetic resonance spectrometry of globotriaosylceramide

Journal of Lipid Research, 1982
Resonances in the carbon-13 natural abundance, proton-decoupled, 90.5 MHz nuclear magnetic resonance spectrum of globotriaosylceramide were assigned to specific carbon nuclei. The chemical shifts were rationalized in terms of the number of sugar residues,
H A Nunez, C C Sweeley
doaj   +3 more sources

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Atsumi Taguchi, Satoshi Ishii, Mariko Mikame, Hiroki Maruyama   +3 more
doaj   +3 more sources

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease. [PDF]

PLoS ONE, 2016
The X-chromosomally linked life-limiting Fabry disease (FD) is associated with deposits of the sphingolipid globotriaosylceramide 3 (Gb3) in various tissues. Skin is easily accessible and may be used as an additional diagnostic and follow-up medium.
Nurcan Üçeyler, Nils Schröter, Waldemar Kafke, Daniela Kramer, Christoph Wanner, Frank Weidemann, Claudia Sommer   +6 more
doaj   +5 more sources

In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters [PDF]

Anais da Academia Brasileira de Ciências, 2019
: Fabry disease (FD) is an X-linked inherited disease and occurs due to mutations in GLA gene that encodes the α-galactosidase enzyme. Consequently, there is an accumulation of enzyme substrates, namely globotriaosylceramide (GB3).
RAFAELA M. ALVARIZ, ISABEL T.D.S. MOREIRA, GABRIELA K. CURY, CARMEN R. VARGAS, ALETHÉA G. BARSCHAK   +4 more
doaj   +4 more sources

Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies. [PDF]

Angew Chem Int Ed Engl
A 310‐helix‐mediated conformational switch promotes a front‐face SNi‐like catalysis by human A4GALT. Mechanism‐guided design identifies AdaGalCer as a selective modulator of globotriaosylceramide (Gb3) biosynthesis, opening a clear route toward new Fabry disease therapeutics.
de Koster N, Vidal-Gironès Ò, de Graaf R, Kok K, Lelieveld LT, Hoogervorst J, Ferraz MJ, Rivas-Fernández JP, Lammers RF, Overkleeft HS, Aerts JMFG, Boot RG, Rovira C, Artola M.   +13 more
europepmc   +3 more sources

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We described a 12‐year‐old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed.
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +2 more sources

An Unusual Etiology of Bayés' Syndrome: Fabry Disease. [PDF]

Ann Noninvasive Electrocardiol
This patient with gene confirmed Fabry disease had advanced interatrial conduction block as seen on atrial‐specific vector tracing demonstrating sinus bradycardia with first‐degree AV block and sinus P‐wave terminal delay with biphasic morphology. The patient was later diagnosed with atrial fibrillation, which led to the diagnosis of Bayés' syndrome ...
Kunce NE, Silva A, Haigney M, Kisling A.
europepmc   +2 more sources

Accumulation of globotriaosylceramide in a case of leiomyosarcoma [PDF]

Biochemical Journal, 1986
Analysis of the glycosphingolipid composition in one case of uterine leiomyosarcoma metastasized to the liver showed an accumulation of globotriaosylceramide as compared with normal liver and uterus from which the tumour originated. The structure and the amount of glycosphingolipids were established by using specific glycosidases, permethylation ...
S C, Li, S K, Kundu, R, Degasperi, Y T, Li   +3 more
openaire   +2 more sources