Lifelong HAO1 knockout was safe and without clinical phenotype in an identified healthy woman, de-risking a rare disease therapeutic approach through the power of naturally occurring human genetic variation.
Embryonic lethality associated with deficiency of UBIAD1, which synthesizes a vitamin K2 subtype, results from aberrant ER-associated degradation of the cholesterol biosynthetic enzyme HMG CoA reductase.
Mouse genetic approaches show that multiple Wnt endothelial sources orchestrate the spatiotemporal distribution of hepatocyte functions during liver maturation and respecify metabolic zonation during liver repair.
Death receptor 5 can directly sense misfolded proteins downstream of the endoplasmic reticulum to provide a quality control mechanism that executes apoptosis and prevents further production of misfolded proteins.
MET acts as a dependence receptor in vivo by promoting hepatocyte apoptosis, a response induced by a caspase generated fragment able to favor calcium exchange between endoplasmic reticulum and mitochondria.
A computational model, based on single-cell features like contractility and polarizability, quantitatively describes cellular dynamics from the single cell level up to small cohorts and confluent tissues.
The gluconeogenic enzyme PCK1 and pyrimidine nucleotide biosynthetic enzyme DHODH drive hypoxic pyrimidine nucleotide biosynthesis and liver metastatic colonization in colorectal cancer, which is therapeutically exploitable by DHODH pharmacologic inhibition.