Advanced Healthcare Materials, EarlyView.Novel photo‐clickable triazine‐trione thermosets can be shaped and cured under mild conditions, including room and physiological temperatures. These materials are biocompatible and support osteogenic differentiation of bone marrow–derived mesenchymal stem cells on their surface.
Åshild Johansen +7 more
wiley +1 more source
Evidence of epigenetic landscape shifts in mucopolysaccharidosis IIIB and IVA
Scientific ReportsLysosomal storage diseases (LSDs) are a group of monogenic diseases characterized by mutations in genes coding for proteins associated with the lysosomal function.
Viviana Vargas-López +2 more
doaj +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
doaj +1 more source
Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity [PDF]
, 2023 Michael Setzer +3 more
openalex +1 more source
Probiotic‐Based Materials as Living Therapeutics
Advanced Materials, EarlyView.Recent advances in Engineered Living Materials are highlighted, integrating synthetic biology and advanced materials, with a focus on probiotic‐based therapeutics. Probiotic Living Materials hold great potential for biosensing, infection treatment, osteogenesis, wound healing, vaginal and gastrointestinal disorders, and cancer therapy. breakthroughs in
Laura Sabio +2 more
wiley +1 more source
ATF5‐Dependent GDF15 Expression Mediates Anesthesia‐Induced Neuroprotection Against Stroke
Advanced Science, EarlyView.Anesthesia‐induced preconditioning protects against perioperative stroke. By manipulating ATF5 in excitatory neurons, it is shown that anesthesia‐driven ATF5 upregulation activates the mitochondrial unfolded protein response (UPRmt) and elevates GDF15 expression.
Xianshu Ju +11 more
wiley +1 more source
Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]
Journal of Krishna Institute of Medical Sciences University, 2021 Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty +5 more
doaj
Fluorinated Carnitine Derivatives as Tools to Visualise Carnitine Transport and Metabolism
Advanced Science, EarlyView.Fluorinated carnitines, fluoromethyl carnitine (FMC) and [18F]fluoromethyl carnitine ([18F]FMC), are synthesised and established as powerful probes to interrogate carnitine biology. The multimodal detection facilitated by fluorine labelling, including 19F NMR, mass spectrometry, and positron emission tomography imaging, allowed for visualisation of ...
Richard S. Edwards +8 more
wiley +1 more source
Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes
Neurobiology of Disease, 2010 AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant +3 more
doaj +1 more source
Advanced Science, EarlyView.The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang +16 more
wiley +1 more source