Results 11 to 20 of about 9,737,550 (145)

Olipudase alfa IgE-mediated anaphylaxis prevented by omalizumab and tailored desensitization in a child with acid sphingomyelinase deficiency. [PDF]

Pediatr Allergy Immunol
Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Fiori L, Tagi VM, Beretta S, Montanari C, Greco IP, Zuccotti G, D'Auria E.   +6 more
europepmc   +2 more sources

Ligand‑Based Virtual Screening Discovery of Thienopyrimidinone Derivatives as Allosteric nSMase2 Modulators and Antivirals Against West Nile Virus. [PDF]

ChemMedChem
Ligand‐based virtual screening of over five million compounds identifies a thienopyrimidinone hit as a novel allosteric nSMase2 modulator. Structure‐guided optimisation improves inhibitory potency and delivers derivatives with antiviral activity against West Nile virus, expanding the chemical space of nSMase2 inhibitors and supporting host‐directed ...
Álvarez-Fernández H, Mingo-Casas P, Blázquez AB, Caridi F, Martín-Acebes MA, Pérez-Pérez MJ, Priego EM.   +6 more
europepmc   +2 more sources

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results. [PDF]

J Inherit Metab Dis
ABSTRACT Acid sphingomyelinase deficiency (ASMD) is a rare debilitating lysosomal storage disease resulting in multisystemic disease manifestations, significant disease burden, and early mortality for some individuals. Enzyme replacement therapy (ERT) with olipudase alfa (Xenpozyme) is the first disease‐specific treatment indicated for noncentral ...
Wasserstein MP, Hollak CE, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lachmann R, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Thurberg BL, Villarrubia J, Armstrong NM, Bhushan S, Kim Y, Kumar M.   +20 more
europepmc   +2 more sources

High cholesterol absorption efficiency enhances proatherogenic properties of low-density lipoprotein particles. [PDF]

J Intern Med
Abstract Background and Aims High cholesterol absorption efficiency is determined by genetic variation in small intestinal sterol transporters and affects one‐third of individuals. Their risk for atherosclerotic cardiovascular disease (ASCVD) is increased compared with low cholesterol absorbers, despite similar serum lipid concentrations.
Öörni K, Äikäs L, Ruuth M, Tigistu-Sahle F, Käkelä R, Wester I, Gylling H, Simonen P.   +7 more
europepmc   +2 more sources

Cambinol, a novel inhibitor of neutral sphingomyelinase 2 shows neuroprotective properties [PDF]

, 2015
This work was supported by National Institute of Mental Health grants: P30 MH075673-06 to BSS, CR, NJH and JCM; R01 MH096636 and R01 MH077542 to NJH (http://projectreporter.nih.gov/reporter.​cfm); and The Johns Hopkins Brain Science Institute to BSS ...
Justin C. McArthur (66539), Bandaru, Veera Venkata Ratnam, Graeme W. Rogers (744791), Yoo, Seung-Wan, Seung-Wan Yoo (744790), McArthur, Justin C., Justin C McArthur, Veera Venkata Ratnam Bandaru (193990), Haughey, Norman J., Marigo Stathis, Graeme W Rogers, Figuera-Losada, Mariana, Veera Venkata Ratnam Bandaru, Stathis, Marigo, Norman J Haughey, Slusher, Barbara S., Barbara S Slusher, Barbara S. Slusher (634276), Joelle M Dorskind, Nicholas J Westwood, Seung-Wan Yoo, Norman J. Haughey (193998), Mariana Figuera-Losada (744786), Marigo Stathis (744787), Camilo Rojas (744792), Ajit G. Thomas (744789), Westwood, Nicholas James, Rojas, Camilo, Nicholas J. Westwood (254891), Thomas, Ajit G., Rogers, Graeme Wayne, Mariana Figuera-Losada, Joelle M. Dorskind (744788), Ajit G Thomas, Dorskind, Joelle M., Camilo Rojas   +35 more
core   +2 more sources

Long-Term Safety and Clinical Outcomes With Olipudase Alfa Enzyme Replacement Therapy in Children and Adolescents With Acid Sphingomyelinase Deficiency. [PDF]

J Inherit Metab Dis
Scarpa M, Diaz GA, Giugliani R, Jones SA, Mengel E, Guffon N, Witters P, Ganesh J, Armstrong NM, Srivastava S, Kim Y.   +10 more
europepmc   +2 more sources

Acid sphingomyelinase expression is associated with survival in resectable pancreatic ductal adenocarcinoma [PDF]

, 2023
: Pancreatic adenocarcinoma (PDAC) is one of the most common cancers worldwide. Unfortunately, the prognosis of PDAC is rather poor, and for instance, in the USA, over 47,000 people die because of pancreatic cancer annually.
Wang J., Patel S. H., Turner K. M., Wilson G. C., Becker K. A., Ahmad S. A., Szabo I., Gulbins E., Xu K., Carpinteiro A.   +9 more
core   +1 more source

Acid Sphingomyelinase Deficiency Ameliorates Farber Disease [PDF]

, 2019
Farber disease is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments for Farber disease are clinically available, and affected patients have a severely shortened lifespan.
Michael J. Edwards, Kleuser, Burkhard (Prof. Dr. rer. nat.), Walter J. Schulz-Schaeffer, Gulbins, Erich, Claudine Kühn, Kuehn, Claudine, Katrin Anne Becker, Fabian Schumacher, Becker, Katrin Anne, Edwards, Michael J., Kramer, Melanie, Melanie Kramer, Kadow, Stephanie, Stephanie Kadow, Burkhard Kleuser, Beckmann, Nadine, Nadine Beckmann, Schulz-Schaeffer, Walter J., Carpinteiro, Alexander, Alexander Carpinteiro, Schumacher, Fabian (Dr.), Erich Gulbins   +21 more
core   +2 more sources

Targeting the ASMase/S1P pathway protects from sortilin-evoked vascular damage in hypertension

The Journal of Clinical Investigation, 2022
Sortilin has been positively correlated with vascular disorders in humans. No study has yet evaluated the possible direct effect of sortilin on vascular function.
Paola Di Pietro, Albino Carrizzo, Eduardo Sommella, Marco Oliveti, Licia Iacoviello, Augusto Di Castelnuovo, Fausto Acernese, Antonio Damato, Massimiliano De Lucia, Fabrizio Merciai, Paola Iesu, Eleonora Venturini, Raffaele Izzo, Valentina Trimarco, Michele Ciccarelli, Giuseppe Giugliano, Roberto Carnevale, Vittoria Cammisotto, Serena Migliarino, Nicola Virtuoso, Andrea Strianese, Viviana Izzo, Pietro Campiglia, Elena Ciaglia, Bodo Levkau, Annibale A. Puca, Carmine Vecchione   +26 more
doaj   +1 more source

Recombinant human preproinsulin expression, purification and reaction with insulin autoantibodies in sera from patients with insulin-dependent diabetes mellitus [PDF]

, 1993
A novel prokaryotic expression vector pGEX-6T was designed for high-level expression of recombinant fusion protein with a histidine-hexapeptide and glutathione-S-transferase at its N-terminus and the recombinant human preproinsulin at its C-terminus ...
Seißler, Jochen, Mauch, Ludwig, Walter, Michael, Northemann, Wolfgang, Berg, Heike   +4 more
core   +1 more source