The non-essential amino acid serine supports several metabolic processes that are crucial
for the growth and survival of proliferating cells, including protein, amino acid and …

Plasma glycine level is low in patients with obesity or diabetes and the improvement of
insulin resistance increases plasma glycine concentration. In prospective studies …

Epilepsy is characterized by recurrent seizures due to a perturbed balance between
glutamate and GABA neurotransmission. Our goal is to reveal the molecular mechanisms of …

Folate-mediated one-carbon metabolism (FOCM) is compartmentalized within human cells
to the cytosol, nucleus, and mitochondria. The recent identifications of mitochondria-specific …

Background Next-generation sequencing (NGS) technology has allowed the promotion of
genetic diagnosis and are becoming increasingly inexpensive and faster. To evaluate the …

The lack of attachment of lipoic acid to its cognate enzyme proteins results in devastating
human metabolic disorders. These mitochondrial disorders are evident soon after birth and …

Neural tube defects (NTDs) occur secondary to failed closure of the neural tube between the
third and fourth weeks of gestation. The worldwide incidence ranges from 0.3 to 200 per …

Abstract Glycine encephalopathy (MIM# 605899) is an autosomal recessive inborn error of
metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding …

In both humans and rodent models, circulating glycine levels are significantly reduced in
obesity, glucose intolerance, type II diabetes, and non‐alcoholic fatty liver disease. The …

Background Neural tube defects (NTDs) are one of the most common congenital birth
defects, with myelomeningocele (MM) being the most severe form compatible with life …