Results 51 to 60 of about 18,841 (183)

Case report: The spectrum of SMPD1 pathogenic variants in Hungary

Frontiers in Genetics, 2023
Acid sphingomyelinase deficiency (ASMD) is an autosomal recessive disease caused by biallelic pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene.
Maria Judit Molnar, Maria Judit Molnar, Tamas Szlepak, Tamas Szlepak, Ildikó Csürke, Szendile Loth, Rita Káposzta, Melinda Erdős, Antal Dezsőfi   +8 more
doaj   +1 more source

Effect of Procysteine on aging-associated changes in hepatic GSH and SMase: evidence for transcriptional regulation of smpd3[S]

Journal of Lipid Research, 2014
In hepatocytes, aging-associated decline in GSH has been linked to activation of neutral SMase (nSMase), accumulation of bioactive ceramide, and inflammation. In this study, we seek to test whether dietary supplementation with the cysteine precursor, L-2-
Gergana Deevska, Manjula Sunkara, Claudia Karakashian, Benjamin Peppers, Andrew J. Morris, Mariana N. Nikolova-Karakashian   +5 more
doaj   +1 more source

Understanding extracellular vesicle biology, isolation, and characterization: The theory of EV‐erything

Periodontology 2000, EarlyView.
Abstract Background Extracellular vesicles (EVs), especially exosomes, are nanoparticles increasingly recognized as key regulators of intercellular communication in both physiological and pathological aspects. Despite rapid progress, inconsistencies in nomenclature, isolation, and characterization continue to restrict translational advancement.
Paras Ahmad, Nima Farshidfar, Nathan E. Estrin, Yulan Wang, Yufeng Zhang, Anton Sculean, Richard J. Miron   +6 more
wiley   +1 more source

Multiplex analysis of sphingolipids using amine-reactive tags (iTRAQ)

Journal of Lipid Research, 2011
Ceramides play a crucial role in divergent signaling events, including differentiation, senescence, proliferation, and apoptosis. Ceramides are a minor lipid component in terms of content; thus, highly sensitive detection is required for accurate ...
Takuji Nabetani, Asami Makino, Françoise Hullin-Matsuda, Taka-aki Hirakawa, Shinji Takeoka, Nozomu Okino, Makoto Ito, Toshihide Kobayashi, Yoshio Hirabayashi   +8 more
doaj   +1 more source

Penfluridol targets acid sphingomyelinase to inhibit TNF signaling and is therapeutic against inflammatory autoimmune diseases

Arthritis Research & Therapy, 2022
Background Penfluridol, isolated from an FDA-approved small-molecule drug library as an inhibitor of tumor necrosis factor α (TNFα)-stimulated NF-κB activation, is clinically used to treat chronic schizophrenia and related disorders.
Yue-hong Chen, Rong-han Liu, Ya-zhou Cui, Aubryanna Hettinghouse, Wen-yu Fu, Lei Zhang, Chen Zhang, Chuan-ju Liu   +7 more
doaj   +1 more source

An Optimized Diagnostic Approach for Adults With Suspected Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
A multidisciplinary strategy that integrates deep phenotyping with expert genetic interpretation substantially increases the likelihood of reaching a diagnosis in adults suspected of having an IMD. ABSTRACT Inherited metabolic disorders (IMDs) arise from defects in metabolic pathways essential for normal biochemical function.
Machteld M. Oud, Elise A. Ferreira, Clara D. M. van Karnebeek, Robin Wijngaard, Nicole I. Wolf, Marc Engelen, Mareen Datema, Sacha Ferdinandusse, André B. P. van Kuilenburg, Laura Steinbusch, Saskia N. van der Crabben, Mirjam Langeveld, on behalf of the ZOEMBA Study Group   +12 more
wiley   +1 more source

Sphingomyelinase Activity in Human Platelets

Thrombosis Research, 1998
The sphingolipid metabolites, ceramide, sphingosine, and sphingosine-1-phosphate, may be involved in several signalling pathways and may regulate cell functions such as cell growth, secretion, differentiation, and apoptosis. During activation of human platelets by thrombin, sphingosine-1-phosphate is released from platelets and can potentiate their ...
C G, Simon, S, Chatterjee, A R, Gear
openaire   +2 more sources

Anxiety and Depression Are Related to Higher Activity of Sphingolipid Metabolizing Enzymes in the Rat Brain

Cells, 2020
Changes in sphingolipid metabolism have been suggested to contribute to the pathophysiology of major depression. In this study, we investigated the activity of acid and neutral sphingomyelinases (ASM, NSM) and ceramidases (AC, NC), respectively, in ...
Iulia Zoicas, Christiane Mühle, Anna K. Schmidtner, Erich Gulbins, Inga D. Neumann, Johannes Kornhuber   +5 more
doaj   +1 more source

ROLE OF CERAMIDE IN TRANSFERRIN RECEPTOR MOVEMENT IN THE PLANE OF THE PLASMA MEMBRANE [PDF]

Assiut Veterinary Medical Journal, 2010
After ligation with transferrin (Tf), transferrin receptor (TfR) is aggregated on cell surface in clathrin coated pits and then internalized into the cell.
RANA ALAWADHI, A-B.M. ABDEL-SHAKOR
doaj   +1 more source

Ligand‑Based Virtual Screening Discovery of Thienopyrimidinone Derivatives as Allosteric nSMase2 Modulators and Antivirals Against West Nile Virus

ChemMedChem, Volume 21, Issue 16, 27 August 2026.
Ligand‐based virtual screening of over five million compounds identifies a thienopyrimidinone hit as a novel allosteric nSMase2 modulator. Structure‐guided optimisation improves inhibitory potency and delivers derivatives with antiviral activity against West Nile virus, expanding the chemical space of nSMase2 inhibitors and supporting host‐directed ...
Hadrián Álvarez‐Fernández, Patricia Mingo‐Casas, Ana‐Belén Blázquez, Flavia Caridi, Miguel A. Martín‐Acebes, María‐Jesús Pérez‐Pérez, Eva‐María Priego   +6 more
wiley   +1 more source