One-carbon (1C) metabolism, mediated by the folate cofactor, supports multiple
physiological processes. These include biosynthesis (purines and thymidine), amino acid …

The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can
be inherited or acquired, and result in defective keratinocyte differentiation and abnormal …

Background We report the findings from 4437 individuals (3219 patients and 1218 relatives)
who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine …

Large-scale phenotyping efforts have demonstrated that approximately 25–30% of mouse
gene knockouts cause intrauterine lethality. Analysis of these mutants has largely focused …

Serine metabolism is frequently dysregulated in cancers; however, the benefit that this
confers to tumors remains controversial. In many cases, extracellular serine alone is …

L-serine plays an essential role in a broad range of cellular functions including protein
synthesis, neurotransmission, and folate and methionine cycles and synthesis of …

Alteration of brain aerobic glycolysis is often observed early in the course of Alzheimer's
disease (AD). Whether and how such metabolic dysregulation contributes to both synaptic …

Aminotransferases (ATs) are pyridoxal 5′-phosphate–dependent enzymes that catalyze
the transamination reactions between amino acid donor and keto acid acceptor substrates …

Aims Genetic dilated cardiomyopathy (DCM) is a leading cause of heart failure. Despite
significant progress in understanding the genetic aetiologies of DCM, the molecular …

The neocortex, the seat of our higher cognitive abilities, has expanded in size during the
evolution of certain mammals such as primates, including humans. This expansion occurs …