Mentioned in

References in periodicals archive

[8] Human Genes: ZFX, zincfinger protein, X-linked; ZFY, zinc finger protein, Y-linked; GJB2, gap junction protein beta 2; OTC, ornithine carbamoyltransferase.

Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR

Ornithine transcarbamylase (OTC) deficiency (also referred to as ornithine carbamoyltransferase deficiency) is an Xlinked proximal urea cycle disorder that results in a spectrum of severe neonatal-onset disease in boys, rarely in girls, and a milder adult-onset presentation.

Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again

Additionally, IFM demonstrated higher protein import rates for the precursors to malate dehydrogenase and ornithine carbamoyltransferase [60].

Mitochondrial Heterogeneity: Evaluating Mitochondrial Subpopulation Dynamics in Stem Cells

The majority of these expressed proteins were involved in glycolysis (enolase, fructose-bisphosphate aldolase, glyceraldehyde-3-phosphate dehydrogenase, L-lactate dehydrogenase, 6-phosphofructokinase, glucose-6-phosphate isomerase, phosphoglycerate kinase, phosphopyruvate hydratase, pyruvate kinase, triosephosphate isomerase, and 2,3-bisphosphoglycerate-dependent phosphoglycerate mutase) and the remaining proteins were involved in fer-mentation (alcohol-acetaldehyde dehydrogenase, formate ace-tyltransferase, and pyruvate-formate lyase), the pentose phosphate pathway (6-phosphogluconate dehydrogenase [decarboxylating]), pyruvate decarboxylation (pyruvate dehydrogenase complex E2 component), and the urea cycle (ornithine carbamoyltransferase).

Growth phase-dependent proteomes of the Malaysian isolated Lactococcus lactis dairy strain M4 using label-free qualitative shotgun proteomics analysis

This hypothesis is supported by expression of arcA, arcB, arcC, and arcD, genes predicted to encode an arginine deiminase, an ornithine carbamoyltransferase, a carbamate kinase, and an arginine/ornithine antiporter, respectively (Table 3).

Investigation into the physiologies of Aeromonas veronii in vitro and inside the digestive tract of the medicinal leech using RNA-seq

Nearly all of the proteins altered in significant amounts were identified as enzymes associated with important metabolic pathways, such as alcohol dehydrogenase, glyceraldehyde-3-phosphate dehydrogenase (GAPDH), Xaa-His dipeptidase, ornithine carbamoyltransferase, putative O-acetylserine lyase, enolase (2-phosphoglycerate dehydratase), fructose-bisphosphate aldolase, and cysteine synthase.

Potential antibiotic and anti-infective effects of rhodomyrtone from Rhodomyrtus tomentosa (Aiton) Hassk. On Streptococcus pyogenes as revealed by proteomics

This dramatic case stumped physicians until the woman's blood revealed a telltale high level of ammonia, a diagnostic clue suggesting a rare, inherited disorder called ornithine carbamoyltransferase deficiency.

Pregnancy unmasks fatal metabolism defect

One of the girls who died after dermal exposure was partially deficient in the enzyme ornithine carbamoyltransferase (3); DEET may interfere with the urea cycle metabolic pathway (10).

Seizures temporally associated with use of DEET insect repellent - New York and Connecticut