Results 31 to 40 of about 5,921 (149)

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

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
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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

The landscape of acid sphingomyelinase deficiency in a new therapeutic era: insights from experts in the Gulf region

Journal of Biochemical and Clinical Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene.
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi   +6 more
doaj   +1 more source

Niemann-Pick disease A or B in four pediatric patients and SMPD1 mutation carrier frequency in the Mexican population

Annals of Hepatology, 2019
Introduction and Objectives: Niemann-Pick disease type A (NPD-A) and B (NPD-B) are lysosomal storage diseases with a birth prevalence of 0.4–0.6/100,000. They are caused by a deficiency in acid sphingomyelinase, an enzyme encoded by SMPD1.
Magdalena Cerón-Rodríguez, Edgar Ricardo Vázquez-Martínez, Constanza García-Delgado, Alberto Ortega-Vázquez, Pedro Valencia-Mayoral, Lyuva Ramírez-Devars, Christian Arias-Villegas, Irma Eloísa Monroy-Muñoz, Marisol López, Alicia Cervantes, Marco Cerbón, Verónica Fabiola Morán-Barroso   +11 more
doaj   +1 more source

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet Journal of Rare Diseases, 2019
Background Acid sphingomyelinase deficiency (ASMD), due to mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, is divided into infantile neurovisceral ASMD (Niemann-Pick type A), chronic neurovisceral ASMD (intermediate form, Niemann-Pick ...
Patryk Lipiński, Ladislav Kuchar, Ekaterina Y. Zakharova, Galina V. Baydakova, Agnieszka Ługowska, Anna Tylki-Szymańska   +5 more
doaj   +1 more source

Acid sphingomyelinase deficiency exacerbates LPS‐induced experimental periodontitis

Oral Diseases, 2020
AbstractBackgroundMutation of the gene for acid sphingomyelinase (ASMase) causes Niemann–Pick disease. However, the effect of ASMase deficiency on periodontal health is unknown. Periodontal disease is a disease resulting from infection and inflammation of periodontal tissue and alveolar bone that support the teeth.
Yanchun Li, Zhongyang Lu, Lixia Zhang, Keith L. Kirkwood, Maria F. Lopes‐Virella, Yan Huang   +5 more
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Acid Sphingomyelinase Deficiency Increases Susceptibility to Fatal Alphavirus Encephalomyelitis [PDF]

Journal of Virology, 2006
ABSTRACTSindbis virus (SV), an enveloped virus with a single-stranded, plus-sense RNA genome, is the prototype alphavirus in theTogaviridaefamily. In mice, SV infects neurons and can cause apoptosis of immature neurons. Sphingomyelin (SM) is the most prevalent cellular sphingolipid, is particularly abundant in the nervous systems of mammals, and is ...
Ching G, Ng, Diane E, Griffin
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