Medical Research
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.
Mucosa-associated microbiota drives pathogenic functions in IBD-derived intestinal iNKT cellsPro-inflammatory iNKT cells are enriched in IBD patients’ lamina propria. Exposure to the mucosa-associated microbiota drives their activation, inducing pathogenic activities against the epithelium.
Chromosome alignment maintenance requires the MAP RECQL4, mutated in the Rothmund–Thomson syndromeRECQL4, which is mutated in the Rothmund–Thomson syndrome characterized by premature aging and cancer susceptibility, is a microtubule-associated protein required for mitotic chromosome alignment.
Peroxisome biogenesis deficiency attenuates the BDNF-TrkB pathway-mediated development of the cerebellumPeroxisome biogenesis deficiency leads to increased expression of BDNF and of a truncated form of the BDNF receptor in the cerebellum, attenuates BDNF-TrkB signaling, and results in malformation of the cerebellum.