Results 31 to 40 of about 6,119 (148)

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency [PDF]

Genetics in Medicine, 2017
Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence
McGovern, Margaret M., Dionisi-Vici, Carlo, Giugliani, Roberto, Hwu, Paul, Lidove, Olivier, Lukacs, Zoltan, Eugen Mengel, Karl, Mistry, Pramod K., Schuchman, Edward H., Wasserstein, Melissa P.   +9 more
openaire   +3 more sources

Reproductive Pathology and Sperm Physiology in Acid Sphingomyelinase-Deficient Mice [PDF]

The American Journal of Pathology, 2002
Types A and B Niemann-Pick disease (NPD) are lysosomal storage disorders resulting from the deficient activity of acid sphingomyelinase (ASM). In this manuscript we report the pathobiology of male gonadal tissue and sperm in a knockout mouse model of NPD and demonstrate the importance of ASM for normal sperm maturation and function.
Avigdor, Butler, Xingxuan, He, Ronald E, Gordon, Hai-Shan, Wu, Shimon, Gatt, Edward H, Schuchman   +5 more
openaire   +2 more sources

Human acid sphingomyelinase structures provide insight to molecular basis of Niemann–Pick disease

Nature Communications, 2016
Genetic alterations in the protein acid sphingomyelinase (ASM) lead to ASM deficiency and have been associated with Niemann–Pick disease. Here, the authors report the crystal structures of ASM alone and bound to its product, and discuss the catalytic ...
Yan-Feng Zhou, Matthew C. Metcalf, Scott C. Garman, Tim Edmunds, Huawei Qiu, Ronnie R. Wei   +5 more
doaj   +1 more source

Acid sphingomyelinase deficiency enhances myelin repair after acute and chronic demyelination. [PDF]

PLoS ONE, 2017
The cuprizone animal model, also known as the toxic demyelination model, is a well-reproducible model of demyelination- and remyelination in mice, and has been useful in studying important aspect of human demyelinating diseases, including multiple ...
Marwan Chami, Ramona Halmer, Laura Schnoeder, Katrin Anne Becker, Carola Meier, Klaus Fassbender, Erich Gulbins, Silke Walter   +7 more
doaj   +1 more source

Apoptosis and signalling in acid sphingomyelinase deficient cells [PDF]

BMC Cell Biology, 2001
Recent evidence suggests that the activation of a non-specific lipid scramblase during apoptosis induces the flipping of sphingomyelin from the cell surface to the cytoplasmic leaftet of the plasma membrane. Inner leaflet sphingomyelin is then cleaved to ceramide by a neutral sphingomyelinase.
openaire   +4 more sources

Blockade of Experimental Multiple Sclerosis by Inhibition of the Acid Sphingomyelinase/Ceramide System

Neurosignals, 2017
Background: Multiple sclerosis (MS) is a severe and common autoimmune disorder of the central nervous system. Despite the availability of several novel treatment options, the disease is still poorly controlled, since the pathophysiological mechanisms are
Katrin Anne Becker, Ramona Halmer, Laura Davies, Brian D. Henry, Regan Ziobro-Henry, Yann Decker, Yang Liu, Erich Gulbins, Klaus Fassbender, Silke Walter   +9 more
doaj   +1 more source

Niemann-Pick Disease: Seven Questions about it

Вопросы современной педиатрии, 2023
Acid sphingomyelinase deficiency is a rare hereditary disease caused by enzyme deficiency due to mutations in the SMPD1 gene. Decreased enzyme activity leads to accumulation of sphingomyelin in lysosomes.
Nato D. Vashakmadze, Nataliya V. Zhurkova   +1 more
doaj   +1 more source

Sphingomyelin 16:0 is a therapeutic target for neuronal death in acid sphingomyelinase deficiency

Cell Death and Disease, 2023
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disorder caused by mutations in the SMPD1 gene encoding for the acid sphingomyelinase (ASM). While intravenous infusion of recombinant ASM is an effective treatment for the peripheral disease,
Ángel Gaudioso, Xuntian Jiang, Josefina Casas, Edward H. Schuchman, María Dolores Ledesma   +4 more
doaj   +1 more source

Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology

CPT: Pharmacometrics & Systems Pharmacology, 2018
Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with heterogeneous clinical manifestations, including hepatosplenomegaly and infiltrative pulmonary disease, and is associated with significant morbidity and mortality ...
Chanchala D. Kaddi, Bradley Niesner, Rena Baek, Paul Jasper, John Pappas, John Tolsma, Jing Li, Zachary van Rijn, Mengdi Tao, Catherine Ortemann‐Renon, Rachael Easton, Sharon Tan, Ana Cristina Puga, Edward H. Schuchman, Jeffrey S. Barrett, Karim Azer   +15 more
doaj   +1 more source

Role of Janus-Kinases in Major Depressive Disorder

Neurosignals, 2016
Background/Aims: Major depressive disorder is a severe, common and often chronic disease with a significant mortality due to suicide. The pathogenesis of major depression is still unknown. It is assumed that a reduction of neurogenesis in the hippocampus
Anne Gulbins, Heike Grassmé, Richard Hoehn, Marcus Kohnen, Michael J. Edwards, Johannes Kornhuber, Erich Gulbins   +6 more
doaj   +1 more source