Medical Research
TRAP1 chaperone protein mutations and autoinflammationThis study identifies patients with autoinflammation and mutations affecting the mitochondrial/ER protein chaperone TRAP1, either alone or digenic, with MEFV mutation possibly synergizing to produce severe disease. TRAP1 mutations lead to increased mitochondrial reactive oxygen species and may contribute to autoinflammation.
aYAP modRNA reduces cardiac inflammation and hypertrophy in a murine ischemia-reperfusion modelTransient activation of YAP with a modified mRNA after ischemia-reperfusion stress reduces cardiac inflammation, attenuates cardiac hypertrophic remodeling and helps to salvage the myocardium.
Expression of AXL receptor tyrosine kinase relates to monocyte dysfunction and severity of cirrhosisImmune dysfunction determines morbidity and mortality in liver cirrhosis. Distinct AXL-expressing circulating monocytes, which regulate antimicrobial responses, expand with progression of the disease.
Thymosin β4 promotes autophagy and repair via HIF-1α stabilization in chronic granulomatous diseaseThis study demonstrates that thymosin β4 stabilizes HIF-1a to promote autophagy and up-regulate genes involved in tissue and mucosal barrier protection in chronic granulomatous disease.
Plasmalogen loss caused by remodeling deficiency in mitochondria31P NMR unveils cell type–dependent losses of plasmalogen in the chain remodeling–deficient brain, liver, kidney, and lymphoblast in association with aberrant mitochondrial function and morphology.
Human organotypic brain slice culture: a novel framework for environmental research in neuro-oncologyTherapeutically resected, adult brain segments were maintained and characterized for an extended period to study glioblastoma progression and treatment in its almost natural environment.
An N-terminal–truncated isoform of FAM134B (FAM134B-2) regulates starvation-induced hepatic selective ER-phagyThis study has identified a novel truncated isoform of FAM134B (FAM134B-2) that regulates starvation-induced selective ER-phagy of secretory proteins such as ApoCIII through the activation of C/EBPβ.
Functional inhibition of acid sphingomyelinase disrupts infection by intracellular bacterial pathogensMany intracellular pathogens hijack cholesterol. Inhibiting acid sphingomyelinase alters cholesterol traffic to target different intracellular bacteria, signifying a host-directed approach for treating infectious disease.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changesThis work demonstrates that pathogenic variants in PISD cause mitochondrial disease and suggests a novel mechanistic link whereby impaired lipid content in the inner mitochondrial membrane alters the activity of inner mitochondrial membrane proteases.
Innate extracellular vesicles from melanoma patients suppress β-catenin in tumor cells by miRNA-34aOperated cancer patients develop elevated levels of extracellular vesicles (EVs) in their blood stream, suppressing cancer cells through miRNA-34a.