Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer+11 more
wiley +1 more source
Hyperploidy of embryonic fibroblasts derived from <i>Parp-1</i> knockout mouse
Tadashige Nozaki+8 more
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Metabolic Consequences of Rheumatoid Arthritis
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry+2 more
wiley +1 more source
Elevated susceptibility of the p53 knockout mouse esophagus to methyl-N-amylnitrosamine carcinogenesis [PDF]
Norimitsu Shirai
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Background In complex diseases, it is challenging to assess a patient's disease state, trajectory, treatment exposures, and risk of multiple outcomes simultaneously, efficiently and at the point of care. Methods We developed an interactive patient‐level data visualization and analysis tool (VAT) that automates illustration of a scleroderma patient's ...
Ji Soo Kim+18 more
wiley +1 more source
Generation and characterization of a DYNLT1-knockout mouse model reveals electrophysiological alterations and potential mechanistic contributors to atrial fibrillation. [PDF]
Chen T+6 more
europepmc +1 more source
Effects of Fragile X syndrome and an FMR1 knockout mouse model on forebrain neuronal cell biology [PDF]
James D. Churchill+3 more
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β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio+11 more
wiley +1 more source
Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies. [PDF]
Briere A+52 more
europepmc +1 more source
Extracellular vesicles (EVs) play a dual role in diagnostics and therapeutics, offering innovative solutions for treating cancer, cardiovascular, neurodegenerative, and orthopedic diseases. This review highlights EVs’ potential to revolutionize personalized medicine through specific applications in disease detection and treatment.
Farbod Ebrahimi+4 more
wiley +1 more source