Intestinal Acid Sphingomyelinase Protects From Severe Pathogen-Driven Colitis [PDF]
Frontiers in Immunology, 2019 Inflammatory diseases of the gastrointestinal tract are emerging as a global problem with increased evidence and prevalence in numerous countries. A dysregulated sphingolipid metabolism occurs in patients with ulcerative colitis and is discussed to ...
Jana Meiners +16 more
doaj +3 more sources
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
doaj +2 more sources
Relationship Between Plasma Acid Sphingomyelinase and Alteration in Taste and Smell as Indicator of Long COVID in Pregnant Women [PDF]
ReportsBackground: Persistent alterations in taste and smell affect a significant proportion of individuals following COVID-19, representing a component of post-acute COVID-19 syndrome, commonly referred to as long COVID.
Federico Fiorani +11 more
doaj +2 more sources
The impact of sphingomyelin on the pathophysiology and treatment response to olipudase alfa in acid sphingomyelinase deficiency [PDF]
Genetics in Medicine OpenAcid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder caused by pathogenic variants in the SMPD1 gene causing low or absent activity of the enzyme acid sphingomyelinase, resulting in subsequent accumulation of its substrate ...
Monica Kumar +8 more
doaj +2 more sources
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
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 +7 more
doaj +1 more source
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
doaj +1 more source
The Role of Sphingomyelin Breakdown in Measles Virus Immunmodulation [PDF]
, 2014 Measles virus (MV) efficiently causes generalized immunosuppression which accounts to a major extent for cases of measles-asscociated severe morbidity and mortality.
Avota, Elita +1 more
core +9 more sources
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
doaj +1 more source
Sphingolipid metabolism correlates with cerebrospinal fluid Beta amyloid levels in Alzheimer's disease. [PDF]
PLoS ONE, 2015 Sphingolipids are important in many brain functions but their role in Alzheimer's disease (AD) is not completely defined. A major limit is availability of fresh brain tissue with defined AD pathology. The discovery that cerebrospinal fluid (CSF) contains
Alfred N Fonteh +5 more
doaj +1 more source