Results 81 to 90 of about 7,739 (261)

The association of shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effect [PDF]

, 2006
Receptor-mediated internalization to the endoplasmic reticulum (ER) and subsequent retro-translocation to the cytosol are essential sequential processes required for the productive intoxication of susceptible mammalian cells by Shiga-like toxin-1 (SLTx).
Falguières, Thomas, Jarvis, Rosemary M., Johannes, Ludger, Lord, Mike, Platt, Frances M., Roberts, L. M. (Lynne M.), Sillence, Daniel J., Smith, Daniel C.   +7 more
core   +3 more sources

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

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy

PLoS ONE, 2017
Background Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known.
R. Liguori, A. Incensi, S. de Pasqua, R. Mignani, E. Fileccia, M. Santostefano, E. Biagini, C. Rapezzi, Silvia Palmieri, Ilaria Romani, W. Borsini, A. Burlina, R. Bombardi, M. Caprini, P. Avoni, V. Donadio   +15 more
semanticscholar   +1 more source

Neutral glycosphingolipids in human blood: a precise mass spectrometry analysis with special reference to lipoprotein-associated Shiga toxin receptors[S]

Journal of Lipid Research, 2010
Shiga toxin (Stx)-producing Escherichia coli are the leading cause of hemorrhagic colitis and life-threatening extraintestinal complications in humans. Stx1 and Stx2 are transferred by yet to be delineated mechanisms from the intestine to the circulation
Christian H. Schweppe, Petra Hoffmann, Jerzy-Roch Nofer, Gottfried Pohlentz, Michael Mormann, Helge Karch, Alexander W. Friedrich, Johannes Müthing   +7 more
doaj   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

Molecular Genetics & Genomic Medicine, 2019
Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐galactosidase A (α‐Gal A ...
M. Cerón-Rodríguez, G. Ramón‐García, Edgar Barajas-Colon, Isidro Franco-Álvarez, Juan L Salgado-Loza   +4 more
semanticscholar   +1 more source

Long‐term effectiveness and safety outcomes in adults with Fabry disease treated with agalsidase alfa: 20 years of data from the Fabry Outcome Survey

European Journal of Clinical Investigation, Volume 56, Issue 1, January 2026.
Long‐term treatment with agalsidase alfa in 1864 adults with Fabry disease in the Fabry Outcome Survey confirmed previously reported beneficial effects on renal function and cardiomyopathy. Over a median (min, max) of 6.0 (0, 21.6) years of treatment, annualized changes in eGFR remained relatively stable in females and declined slightly in males.
Derralynn A. Hughes, Guillem Pintos‐Morell, Christoph Kampmann, Christina Anagnostopoulou, Jaco Botha, Siddharth Jain, Kathleen Nicholls, Dau‐Ming Niu, Ricardo Reisin, Michael L. West, Jörn Schenk, Uma Ramaswami, Roberto Giugliani   +12 more
wiley   +1 more source

Interaction of factor H-binding protein of Streptococcus suis with globotriaosylceramide promotes the development of meningitis

Virulence, 2017
Streptococcus suis is an important emerging zoonotic agent that causes acute bacterial meningitis in humans with high mortality and morbidity. Our previous work showed that factor H-binding protein (Fhb) contributed to virulence of S.
Decong Kong, Zhe Chen, Junping Wang, Qingyu Lv, Hua Jiang, Yuling Zheng, Maokai Xu, Xuyu Zhou, Huai-jie Hao, Yongqiang Jiang   +9 more
semanticscholar   +1 more source

Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics. [PDF]

, 2019
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways by genetic mutations, either directly or indirectly by cofactor deficiencies ...
Fiehn, Oliver, Ismail, Israa T, Showalter, Megan R   +2 more
core   +2 more sources

Das Parkinson‐Medikament Tolcapon und dessen Derivative sind Potente Glykomimetische Inhibitoren des Pseudomonas aeruginosa Lektins LecA

Angewandte Chemie, Volume 137, Issue 50, December 8, 2025.
Wir stellen Tolcapon und dessen Derivate als eine neue Klasse potenter Glykomimetika zur Lektininhibition vor. Über 3.200 Verbindungen der Roche‐Substanzbibliothek wurden experimentell gescreent und eine Auswahl biophysikalisch untersucht. Unsere Ergebnisse zeigen das Potenzial zur Entwicklung potenter nicht‐kohlenhydratbasierter glykomimetischer ...
Steffen Leusmann, Eike Siebs, Sakonwan Kuhaudomlarp, Annabelle Varrot, Anne Imberty, Bernd Kuhn, Christian Lerner, Uwe Grether, Alexander Titz   +8 more
wiley   +1 more source