Results 11 to 20 of about 6,914 (144)

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann–Pick disease type B (acid sphingomyelinase deficiency) [PDF]

Genetics in Medicine, 2016
Enzyme replacement therapy with olipudase alfa (recombinant human acid sphingomyelinase) is being developed for Niemann-Pick disease type B (NPD B).A single-center, open-label, nonrandomized, single-ascending-dose trial evaluated the safety of intravenous olipudase alfa (0.03-1.0 mg/kg) in 11 adults with NPD B.
Margaret M, McGovern, Melissa P, Wasserstein, Brian, Kirmse, W Lane, Duvall, Thomas, Schiano, Beth L, Thurberg, Susan, Richards, Gerald F, Cox   +7 more
openaire   +4 more sources

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency: The utility of animal models of disease in the toxicological evaluation of potential therapeutics

Molecular Genetics and Metabolism, 2015
Recombinant human acid sphingomyelinase (rhASM) is being developed as an enzyme replacement therapy for patients with acid sphingomyelinase deficiency (Niemann-Pick disease types A and B), which causes sphingomyelin to accumulate in lysosomes. In the acid sphingomyelinase knock-out (ASMKO) mouse, intravenously administered rhASM reduced tissue ...
Murray, James M., Thompson, Anne Marie, Vitsky, Allison, Hawes, Michael, Chuang, Wei-Lien, Pacheco, Joshua, Wilson, Stephen, McPherson, John M., Thurberg, Beth L., Karey, Kenneth P., Andrews, Laura   +10 more
openaire   +4 more sources

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan. [PDF]

Mol Genet Genomic Med
In Taiwan, the SMPD1 c.1497_1498inv variant was common in chronic neurovisceral acid sphingomyelinase deficiency (ASMD), while c.995C > G was more frequently observed in chronic visceral ASMD. Four patients treated with olipudase alfa showed clinical improvements, particularly when treatment was started in early childhood.
Lin HH, Chen HA, Lin SJ, Hsu RH, Lee NC, Hwu WL, Ni YH, Chou YY, Chiu PC, Peng SS, Chien YH.   +10 more
europepmc   +2 more sources

Changes in membrane sphingolipid composition modulate dynamics and adhesion of integrin nanoclusters [PDF]

, 2016
Sphingolipids are essential constituents of the plasma membrane (PM) and play an important role in signal transduction by modulating clustering and dynamics of membrane receptors.
Bakker, G.J. (Gert-Jan), Cambi, A. (Alessandra), Eich, C. (Christina), García-Parajo, M.F. (Maria), Keijzer, S. (Sandra) de, Manzo, C. (Carlo), Reinieren-Beeren, I. (Inge)   +6 more
core   +11 more sources

The Role of Sphingomyelin Breakdown in Measles Virus Immunmodulation [PDF]

, 2014
Measles virus (MV) efficiently causes generalized immunosuppression which accounts to a major extent for cases of measles-asscociated severe morbidity and mortality.
Avota, Elita, Schneider-Schaulies, Sibylle   +1 more
core   +5 more sources

Acid Sphingomyelinase Regulates the Localization and Trafficking of Palmitoylated Proteins [PDF]

, 2019
In human, loss of Acid Sphingomeylinase (ASM/SMPD1) causes Niemann-Pick Disease, type A. ASM hydrolyzes sphingomyelins to produce ceramides but protein targets of ASM remain largely unclear. ...
Kim, Yongsoon, Lee, Chia-Fang, Li, Wenjing, Sun, Hong, Xiong, Xiahui, Yu, Jiekai, Zhang, Hul, Zhu, Linyu   +7 more
core   +2 more sources

Bacterial Toxin Exploits Host Membrane Phospholipid as a Receptor for Binding, Entry, and Cytopathogenicity. [PDF]

Mol Microbiol
Mycoplasma pneumoniae pathogenesis relies on its CARDS toxin, which initiates cell binding and subsequent uptake by exploiting sphingomyelin, a key phospholipid found in the host plasma membrane. Maximal cellular entry and full cytotoxic effects are achieved through a synergistic mechanism that involves interaction with the protein coreceptor annexin ...
Kirkpatrick AM, Kannan TR.
europepmc   +2 more sources

Apoptotic signaling through CD95 (Fas/Apo-1) activates an acidic sphingomyelinase. [PDF]

, 1994
Intracellular pathways leading from membrane receptor engagement to apoptotic cell death are still poorly characterized. We investigated the intracellular signaling generated after cross-linking of CD95 (Fas/Apo-1 antigen), a broadly expressed cell ...
Azuma, M, Cifone, MG, De Maria, R, Lanier, LL, Rippo, MR, Roncaioli, P, Santoni, A, Testi, R   +7 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

Investigating the molecular mechanism of toxicity following administration of recombinant human acid sphingomyelinase

The FASEB Journal, 2007
Acid sphingomyelinase (ASM) deficiency is an autosomal recessive disorder resulting from a deficiency of the lysosomal enzyme ASM and subsequent accumulation of sphingomyelin (SM). A mouse model of ASM deficiency was created in which accumulation of SM occurs similar to the human form of the disease.
Emily R LaCasse, Patrick Finn, James Murray, Mindy Zhang, Dapei Lui, Alison McVie‐Wylie, Laura Andrews   +6 more
openaire   +1 more source