Results 51 to 60 of about 10,325 (203)

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

Mechanisms of Action and Cell Death Associated with Clostridium perfringens Toxins. [PDF]

, 2018
Clostridium perfringens uses its large arsenal of protein toxins to produce histotoxic, neurologic and intestinal infections in humans and animals. The major toxins involved in diseases are alpha (CPA), beta (CPB), epsilon (ETX), iota (ITX), enterotoxin (
McClane, Bruce A, Navarro, Mauricio A, Uzal, Francisco A   +2 more
core   +3 more sources

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

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   +3 more sources

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

Neuronal human BACE1 knock-in induces systemic diabetes in mice [PDF]

, 2016
Acknowledgements The authors thank S. Tammireddy (Diabetes and Cardiovascular Science, University of the Highlands and Islands, Inverness, UK) for technical support with the lipidomics component. Funding We would like to thank R.
Dekeryte, Ruta, Delibegovic, Mirela, Doherty, Mary K., Koss, David, Mingarelli, Marco, Mody, Nimesh, Platt, Bettina, Pluci??ska, Kaja, Riedel, Gernot, Shearer, Kirsty, Welch, Andy, Whitfield, Phillip, Whitfield, Phillip D.   +12 more
core   +4 more sources

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

Niemann-Pick type A disease with new mutation: a case report

Journal of Medical Case Reports, 2022
Background Niemann-Pick type A (NP-A) is a congenital, hereditary disease caused by a deficiency in acid sphingomyelinase, a lysosomal enzyme. This deficiency results in an accumulation of sphingomyelin in lysosomes, leading to cellular apoptosis and ...
Fatemeh Aghamahdi, Matineh Nirouei, Shahram Savad   +2 more
doaj   +1 more source