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Nicotinamide nucleotide transhydrogenase

pyridine nucleotide transhydrogenase, nicotinamide nucleotide transhydrogenase
This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membrane. Under most physiological conditions, the enzyme uses energy from the mitochondrial proton gradient to produce high concentrations of NADPH. The resulting NADPH is used for biosynthesis and in free radical detoxification. Two alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ACID, CAN, HAD, V1a, Trypsin
Papers on pyridine nucleotide transhydrogenase
Mitochondrial functions modulate neuroendocrine, metabolic, inflammatory, and transcriptional responses to acute psychological stress.
New
Wallace et al., Philadelphia, United States. In Proc Natl Acad Sci U S A, Jan 2016
By mutating or deleting mitochondrial genes encoded in the mtDNA [NADH dehydrogenase 6 (ND6) and cytochrome c oxidase subunit I (COI)] or nuclear DNA [adenine nucleotide translocator 1 (ANT1) and nicotinamide nucleotide transhydrogenase (NNT)], we selectively impaired mitochondrial respiratory chain function, energy exchange, and mitochondrial redox balance in mice.
A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
New
van Ravenswaaij-Arts et al., Groningen, Netherlands. In Eur J Med Genet, Dec 2015
Recently, it has been indicated that FGD can also be caused by mutations in NNT (nicotinamide nucleotide transhydrogenase).
Effects of the protonophore carbonyl-cyanide m-chlorophenylhydrazone on intracytoplasmic membrane assembly in Rhodobacter sphaeroides.
New
Niederman et al., United States. In Biochim Biophys Acta, Oct 2015
Proteomic analysis of the chromatophore gel bands indicated that CCCP produced a 2.7-fold reduction in spectral counts in the preferentially assembled light-harvesting 2 (LH2) antenna, while the RC-LH1 complex, F1FO-ATPase and pyridine nucleotide transhydrogenase decreased by 1.7-1.9-fold.
Redox Modulation by Reversal of the Mitochondrial Nicotinamide Nucleotide Transhydrogenase.
New
Impact
Murphy, Cambridge, United Kingdom. In Cell Metab, Oct 2015
The mitochondrial nicotinamide nucleotide transhydrogenase (NNT) uses the protonmotive force to transfer electrons from NADH to NADP, thereby maintaining the NADP/NADPH pool reduced to protect mitochondria from oxidative damage.
Reversal of Mitochondrial Transhydrogenase Causes Oxidative Stress in Heart Failure.
New
Impact
Maack et al., Homburg, Germany. In Cell Metab, Oct 2015
The nicotinamide nucleotide transhydrogenase (Nnt) is considered a key antioxidative enzyme based on its ability to regenerate NADPH from NADH.
Combined adrenal failure and testicular adrenal rest tumor in a patient with nicotinamide nucleotide transhydrogenase deficiency.
New
Parvari et al., In J Pediatr Endocrinol Metab, Sep 2015
OBJECTIVE: The nicotinamide nucleotide transhydrogenase (NNT) enzyme is the main generator of nicotinamide adenine dinucleotide phosphate-oxidase in the mitochondrion.
Combined mineralocorticoid and glucocorticoid deficiency is caused by a novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases oxidative stress.
New
Zangen et al., Jerusalem, Israel. In J Med Genet, Sep 2015
Recently, nicotinamide nucleotide transhydrogenase (NNT) mutations were found to cause FGD through a postulated mechanism resulting from decreased detoxification of reactive oxygen species (ROS) in adrenocortical cells.
Impact of a novel homozygous mutation in nicotinamide nucleotide transhydrogenase on mitochondrial DNA integrity in a case of familial glucocorticoid deficiency.
New
Giulivi et al., Hamamatsu, Japan. In Bba Clin, Jul 2015
Recently, mutations in the gene encoding for the mitochondrial nicotinamide nucleotide transhydrogenase (NNT) have been identified as a causative gene for FGD; however, no NNT activities have been reported in FGD patients carrying NNT mutations.
[Genetic features of nitric oxide generating systems predetermine the body's resistance to the development of carcinoma].
Malyshev et al., In Patol Fiziol Eksp Ter, 2015
C57BL/6J, unlike C57BL/6N does not synthesize NNT (nicotinamide nucleotide transhydrogenase) and have differences in the single nucleotide polymorphism (SNP).
Novel insight into etiology, diagnosis and management of primary adrenal insufficiency.
Review
Flück et al., Praha, Czech Republic. In Horm Res Paediatr, 2013
Most mutations were found in the enzyme nicotinamide nucleotide transhydrogenase, which uses the mitochondrial proton pump gradient to produce NADPH.
Redox control of glutamine utilization in cancer.
Review
Gaglio et al., Roma, Italy. In Cell Death Dis, 2013
We also discuss why nicotinamide nucleotide transhydrogenase (NNT) is required in vivo for glutamine utilization by reductive carboxylation.
Familial glucocorticoid deficiency: New genes and mechanisms.
Review
Metherell et al., London, United Kingdom. In Mol Cell Endocrinol, 2013
Recently mutations in mini chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT), genes involved in DNA replication and antioxidant defence respectively, have been recognised in FGD cohorts.
Mitochondrial thiols in the regulation of cell death pathways.
Review
Cadenas et al., Los Angeles, United States. In Antioxid Redox Signal, 2013
The ultimate reductant for these systems is NADPH: mitochondrial sources of NADPH are the nicotinamide nucleotide transhydrogenase, isocitrate dehydrogenase-2, and malic enzyme.
ACTH resistance: genes and mechanisms.
Review
Metherell et al., London, United Kingdom. In Endocr Dev, 2012
Novel gene defects in FGD have recently been recognised in mini-chromosome maintenance-deficient 4 homologue (MCM4) and nicotinamide nucleotide transhydrogenase (NNT).
Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency.
Impact
GeneRIF
Metherell et al., London, United Kingdom. In Nat Genet, 2012
Results suggest that NNT may have a role in ROS detoxification in human adrenal glands.
Diminished NADPH transhydrogenase activity and mitochondrial redox regulation in human failing myocardium.
GeneRIF
Pepe et al., Melbourne, Australia. In Biochim Biophys Acta, 2010
In the failing heart a partial loss of Nnt activity adversely impacts NADPH-dependent enzymes and the capacity to maintain membrane potential, thus contributing to a decline in bioenergetic capacity, redox regulation and antioxidant defense.
Expression of proton-pumping nicotinamide nucleotide transhydrogenase in mouse, human brain and C elegans.
GeneRIF
Rydström et al., Göteborg, Sweden. In Comp Biochem Physiol B Biochem Mol Biol, 2002
the expression of the transhydrogenase gene in subsections of the human brain showed a distribution that apparently varied as a function of neuronal density
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