Results 51 to 60 of about 5,921 (149)
Molecular Genetics and Metabolism, 2020 Acid Sphingomyelinase Deficiency (ASMD), or Niemann-Pick type A/B disease, is a rare lipid storage disorder leading to accumulation of sphingomyelin and its precursors primarily in macrophages. The disease has a broad phenotypic spectrum ranging from a fatal infantile form with severe neurological involvement (the infantile neurovisceral type) to a ...
Eskes, E.C.B. +6 more
openaire +4 more sources
Acid sphingomyelinase deficiency protects from cisplatin-induced gastrointestinal damage [PDF]
Oncogene, 2008 Cisplatin is one of the most effectively used chemotherapeutic agents for cancer treatment. However, in humans, important cytotoxic side effects are observed including dose-limiting renal damage and profound gastrointestinal symptomatology. The toxic responses to cisplatin in mice are similar to those in human patients.
Rébillard, Amélie +13 more
openaire +2 more sources
Molecular Genetics and Metabolism ReportsAcid Sphingomyelinase Deficiency (ASMD) is a lysosomal storage disorder that can lead to severe complications if not promptly treated. This case aims to highlight the critical importance of early awareness of ASMD and to introduce, for the first time in ...
Amber Van Baelen +2 more
doaj +1 more source
Cell Proliferation, EarlyView.Novel curcumin‐derived M4 binds HSP70's ATPase domain, disrupting HSP70‐mediated lysosomes‐autophagy pathway to inhibit TNBC growth and metastasis, and synergizes with paclitaxel for potent combination therapy. ABSTRACT Structural modification of curcumin yielded a novel series of 1,4‐pentadien‐3‐one oxime ether derivatives, among which compound M4 ...
Zijian Li +6 more
wiley +1 more source
A lipid‐sensitive food choice behavior influences aging outcomes from a longevity‐promoting diet
The FEBS Journal, EarlyView.C. elegans are exposed to a variety of bacteria in their natural environment and must be able to distinguish between beneficial and detrimental food sources. We show that C. elegans exposed to the bacterium from their natural habitat, Methylobacterium, disrupts lipid homeostasis, causing worms to avoid this bacterial species and choose the laboratory ...
Nicole L. Stuhr +4 more
wiley +1 more source
International Endodontic Journal, EarlyView.ABSTRACT Aim The aim was to characterize the taxonomic and functional composition of the microbiome involved in primary endodontic infections and to evaluate their association with the periapical lesion size using shotgun metagenomic sequencing. Methodology Samples from primary root canal infections diagnosed with apical periodontitis were analysed ...
Virginia Pérez‐Carrasco +5 more
wiley +1 more source
Acid Sphingomyelinase-deficient Macrophages Have Defective Cholesterol Trafficking and Efflux [PDF]
Journal of Biological Chemistry, 2001 Cholesterol efflux from macrophage foam cells, a key step in reverse cholesterol transport, requires trafficking of cholesterol from intracellular sites to the plasma membrane. Sphingomyelin is a cholesterol-binding molecule that transiently exists with cholesterol in endosomes and lysosomes but is rapidly hydrolyzed by lysosomal sphingomyelinase (L ...
A R, Leventhal +3 more
openaire +2 more sources
Journal of Lipid Research, 2019 Traumatic brain injury (TBI) is one of the leading causes of disability worldwide and a prominent risk factor for neurodegenerative diseases. The expansion of nervous tissue damage after the initial trauma involves a multifactorial cascade of events ...
Sergei A. Novgorodov +5 more
doaj +1 more source
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 +6 more
wiley +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 +12 more
wiley +1 more source