Results 1 to 10 of about 16,352 (116)
Potential Mechanisms of Platelet Dysfunction and Bleeding in Acid Sphingomyelinase Deficiency [PDF]
CellsAcid sphingomyelinase deficiency (ASMD) is an autosomal recessive lysosomal storage disorder caused by mutations in the SMPD1 gene, resulting in sphingomyelin accumulation.
Maksim Sysoev +3 more
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Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy [PDF]
International Journal of Neonatal ScreeningAcid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder with a broad clinical spectrum. Early diagnosis and initiation of treatment are crucial for improving outcomes, yet the disease often goes undiagnosed due to its rarity and ...
Vincenza Gragnaniello +7 more
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Marine Drugs, 2018 Marine triterpene glycosides are attractive candidates for the development of anticancer agents. Holotoxin A1 is a triterpene glycoside found in the edible sea cucumber, Apostichopus (Stichopus) japonicus. We previously showed that cladoloside C2, the 25(
Seong-Hoon Yun +7 more
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Regulation of hematogenous tumor metastasis by acid sphingomyelinase
EMBO Molecular Medicine, 2015 Metastatic dissemination of cancer cells is the ultimate hallmark of malignancy and accounts for approximately 90% of human cancer deaths. We investigated the role of acid sphingomyelinase (Asm) in the hematogenous metastasis of melanoma cells ...
Alexander Carpinteiro +13 more
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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 +8 more
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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 +7 more
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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 +7 more
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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
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Plasma Membrane Repair Is Regulated Extracellularly by Proteases Released from Lysosomes. [PDF]
PLoS ONE, 2016 Eukaryotic cells rapidly repair wounds on their plasma membrane. Resealing is Ca(2+)-dependent, and involves exocytosis of lysosomes followed by massive endocytosis.
Thiago Castro-Gomes +3 more
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Melatonin Acts as an Antidepressant by Inhibition of the Acid Sphingomyelinase/Ceramide System
Neurosignals, 2016 Background: Melatonin has been shown to have antidepressive effects. We tested whether melatonin inhibits the acid sphingomyelinase/ceramide system and mediates its antidepressive effects via inhibition of the acid sphingomyelinase and a reduction of ...
Richard Hoehn +11 more
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