Mitochondria play essential roles in numerous metabolic pathways including the synthesis
of adenosine triphosphate through oxidative phosphorylation. Clinically, mitochondrial …

Ribosome-profiling has uncovered pervasive translation in non-canonical open reading
frames, however the biological significance of this phenomenon remains unclear. Using …

The availability of genome-wide association studies (GWASs) for human blood metabolome
provides an excellent opportunity for studying metabolism in a heritable disease such as …

Background Whole-exome sequencing (WES) and whole-genome sequencing (WGS) have
become indispensable tools to solve rare Mendelian genetic conditions. Nevertheless, there …

SERAC1 deficiency is associated with the mitochondrial 3-methylglutaconic aciduria with
deafness,(hepatopathy), encephalopathy, and Leigh-like disease [MEGD (H) EL] syndrome …

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes Coronavirus
Disease 2019 (COVID-19), which, since 2019 in China, has rapidly become a worldwide …

Various enzymes in the one-carbon metabolic pathway are closely related to the
development of tumors, and they can all be potential targets for cancer therapy. Serine …

Many patients experiencing a rare disease remain undiagnosed even after genomic testing.
Reanalysis of existing genomic data has shown to increase diagnostic yield, although there …

Inherited metabolic disorders are a group of genetic conditions that can cause severe
neurological impairment and child mortality. Uniquely, these disorders respond to dietary …

Abstract Serine hydroxymethyltransferase 2 (SHMT2) converts serine into glycine in the
mitochondrial matrix, transferring a methyl group to tetrahydrofolate. SHMT2 plays an …