Results 81 to 90 of about 5,162 (179)

Self‐Immolative Systems in Diagnostic and Therapeutic Applications

ChemMedChem, Volume 21, Issue 5, 13 March 2026.
Self‐Immolative Systems enable the precise, residue‐free release of active molecules, drugs, probes, or sensors, via cyclization or elimination, triggered by specific stimuli. Their versatility drives advances in drug delivery, diagnostics, nanotechnology, materials chemistry, and biosensing, offering chemists control over molecular activation and ...
Windbedema Prisca Ouédraogo, Thomas Cailly, Valérie Collot   +2 more
wiley   +1 more source

Carbohydrate Conformation and Lipid Condensation in Monolayers Containing Glycosphingolipid Gb3: Influence of Acyl Chain Structure [PDF]

, 2014
Globotriaosylceramide (Gb3), a glycosphingolipid found in the plasma membrane of animal cells, is the endocytic receptor of the bacterial Shiga toxin.
Johannes, Ludger, Dennison, Andrew J.C., Chopin, Nathalie, Struth, Bernd, Florent, Jean-Claude, Dennison, Andrew J. C., Arnold, Thomas, Watkins, Erik B., Gao, Haifei   +8 more
core   +1 more source

Characterization of small fiber pathology in a mouse model of Fabry disease

eLife, 2018
Fabry disease (FD) is a life-threatening X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Small fiber pathology and pain are major FD symptoms of unknown pathophysiology.
Lukas Hofmann, Dorothea Hose, Anne Grießhammer, Robert Blum, Frank Döring, Sulayman Dib-Hajj, Stephen Waxman, Claudia Sommer, Erhard Wischmeyer, Nurcan Üçeyler   +9 more
doaj   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Soluble Globotriaosylceramide as a Potential Systemic and Local Inhibitor of HIV Infection [PDF]

, 2009
Previously we have identified the glycosphingolipid globotriaosylceramide (Gb3/Pk) as an inhibitor and resistance factor against HIV-1 infection in vitro.
Harrison, Amanda L.
core   +1 more source

Severe Aortopathy Caused by Fabry Disease

Annals of Internal Medicine: Clinical Cases
The involvement of the aorta in Fabry disease (FD) is not uncommon, but the need for a surgical intervention and description of its potential results are rare. Pathology of the affected aortic wall is still unavailable. We report severe aortopathy caused
Andrea Frustaci, Ruggero de Paulis, Nicola Galea, Matteo Antonio Russo, Luigi Sansone, Manuel Belli, Aurora Polvani, Romina Verardo   +7 more
doaj   +1 more source

Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

PLoS ONE, 2012
IntroductionEnzyme replacement therapy (ERT) with alpha-Galactosidase A (aGal A) may cause antibody (AB) formation against aGal A in males with Fabry disease (FD). Anti agalsidase ABs negatively influence globotriaosylceramide (Gb3) reduction.
Saskia M Rombach, Johannes M F G Aerts, Ben J H M Poorthuis, Johanna E M Groener, Wilma Donker-Koopman, Erik Hendriks, Mina Mirzaian, Sijmen Kuiper, Frits A Wijburg, Carla E M Hollak, Gabor E Linthorst   +10 more
doaj   +1 more source

A Meta‐Analysis to Unveil the Diagnostic Gaps in Anderson–Fabry Disease in Women

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Anderson–Fabry disease (AFD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A activity. Although historically considered a male disease, it is now recognized that heterozygous women can present with a wide range of symptoms. However, diagnosis in women remains challenging, as
L. Lenzini, G. Pintus, G. Gugelmo, A. P. Burlina, G. P. Fadini, A. B. Burlina, N. Vitturi   +6 more
wiley   +1 more source

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

Anais da Academia Brasileira de Ciências
: 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   +1 more source

Fabry disease and incidence of cancer

Orphanet Journal of Rare Diseases, 2017
Background Fabry disease is an X-linked lysosomal storage disorder caused by deficient activity of α-galactosidase A and the resulting accumulation of the glycosphingolipid globotriaosylceramide (Gb3) and its derivatives, including ...
Sarah Bird, Efthymios Hadjimichael, Atul Mehta, Uma Ramaswami, Derralynn Hughes   +4 more
doaj   +1 more source