Results 131 to 140 of about 472,601 (312)
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
Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness [PDF]
Yelena Bykhovskaya+9 more
openalex +1 more source
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe+4 more
wiley +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
Skeletal Muscle Mitochondrial DNA Injury in Patients With Unilateral Peripheral Arterial Disease
Hari K. Bhat+3 more
openalex +1 more source
Fragile T-stem in Disease-associated Human Mitochondrial tRNA Sensitizes Structure to Local and Distant Mutations [PDF]
Shana O. Kelley+2 more
openalex +1 more source
HMGB1 derived from the pyroptotic environment in Hirschsprung‐associated enterocolitis mediates the formation of macrophage extracellular traps through TLR4 ‐p38 MAPK/p65 NF‐kB signaling pathways. Macrophage extracellular traps induce increased ROS production and pyroptosis of colonic epithelial cells.
Rui Zhang+6 more
wiley +1 more source