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Acid Sphingomyelinase–Deficient Human Lymphoblasts and Mice Are Defective in Radiation-Induced Apoptosis [PDF]

Cell, 1996
Stress is believed to activate sphingomyelinase to generate ceramide, which serves as a second messenger in initiating the apoptotic response. Conclusive evidence for this paradigm, however, is lacking. In the present study, we used a genetic approach to
Pino Santana, Adriana Haimovitz-Friedman, Richard N. Kolesnick   +2 more
exaly   +2 more sources

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Expression of recombinant human acid sphingomyelinase in insect Sf21 cells: purification, processing and enzymatic characterization

Journal of Biotechnology, 1998
Biochemical and structural studies on human acid sphingomyelinase (haSMase) depend on the access to homogeneous biologically active enzyme. Due to the low abundance of native haSMase (n-haSMase) in human tissue, conventional purification strategies are not suitable for the isolation of preparative amounts of the enzyme.
O, Bartelsen, S, Lansmann, M, Nettersheim, T, Lemm, K, Ferlinz, K, Sandhoff   +5 more
openaire   +2 more sources

Hepatic pathology of acid sphingomyelinase deficiency: Clearance of sphingomyelin with recombinant human acid sphingomyelinase administration is associated with improvement in pro-atherogenic lipid profiles

Molecular Genetics and Metabolism, 2015
Beth Thurberg, Melissa P. Wasserstein, Simon A. Jones, Thomas Schiano, Gerald F. Cox, Ana Cristina Puga   +5 more
openaire   +1 more source

PHARMACEUTICAL RECOMBINANT HUMAN ACID SPHINGOMYELINASE COMPOSITIONS AND METHODS

2023
WASYLENKO THOMAS M, BROWER KEVIN, JIN XIAOYING   +2 more
openaire   +1 more source

An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)

Molecular Genetics and Metabolism, 2014
Simon Jones, Melissa Wasserstein, Handrean Soran, Catherine Breen, Beth Thurberg, Kerry Culm-Merdek, Natalie Lippa, Brenda Pimlott, Andrew Cunningham   +8 more
openaire   +1 more source

An open-label, multicenter, ascending-repeat-dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)

Molecular Genetics and Metabolism, 2015
Melissa P. Wasserstein, Simon A. Jones, Handrean Soran, George Diaz, Natalie Lippa, Beth L. Thurberg, Kerry Culm-Merdek, Elias Shamiyeh, Haig Inguilizian, Ana Cristina Puga   +9 more
openaire   +1 more source

A phase 1 trial of recombinant human acid Sphingomyelinase (rhASM) Enzyme replacement therapy in adults with Non-Neuronopathic ASM deficiency (ASMD Niemann-Pick B)

Molecular Genetics and Metabolism, 2011
Margaret McGovern, Melissa Wasserstein, Brian Kirmse, Lane Duvall, Thomas Schiano, Beth Thurberg, Susan Richards, Gerald Cox   +7 more
openaire   +1 more source

USE OF RECOMBINANT HUMAN ACID SPHINGOMYELINASE TO IMPROVE SKELETAL MYOFIBER REPAIR

2022
JAISWAL JYOTI K, DEFOUR AURELIA, BITTEL DANIEL, GOUTAM CHANDRA, SREETAMA SEN CHANDRA   +4 more
openaire   +3 more sources

[16] Purification and characterization of recombinant human acid sphingomyelinase expressed in insect Sf21 cells

2000
S. Lansmann, O. Bartelsen, K. Sandhoff
openaire   +1 more source

Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France

Journal of Clinical Medicine, 2022
Christian Lavigne, Raphael Borie, Olivier Lidove   +2 more
exaly