gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 23 Nov 2016.

Nicotinamide nucleotide adenylyltransferase 1

Nicotinamide-Nucleotide Adenylyltransferase, NMNAT, Nmnat1, nicotinamide mononucleotide adenylyltransferase, NMN adenylyltransferase
This gene encodes an enzyme which catalyzes a key step in the biosynthesis of the coenzyme NAD. The encoded protein is one of several nicotinamide nucleotide adenylyltransferases. Studies in Drosophila and mammalian neurons have shown the encoded protein can confer protection to damaged neurons. This protection requires enzymatic activity which increases NAD levels and activates a nuclear deacetylase which is the protective molecule. Pseudogenes of this gene are located on chromosomes 1, 3, 4, 14 and 15. [provided by RefSeq, Dec 2011] (from NCBI)
Top mentioned proteins: CAN, ACID, STEP, NMNAT2, V1a
Papers on Nicotinamide-Nucleotide Adenylyltransferase
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
New
De Baere et al., Gent, Belgium. In Hum Mutat, Dec 2015
A recently identified LCA gene is NMNAT1, located in the LCA9 locus.
Identification and functional evaluation of Leishmania braziliensis Nicotinamide Mononucleotide Adenylyltransferase.
New
Ramírez et al., Bogotá, Colombia. In Protein Expr Purif, Nov 2015
The enzyme Nicotinamide Mononucleotide Adenylyltransferase (NMNAT, EC 2.7.7.1) catalyzes the central step in nicotinamide adenine dinucleotide (NAD(+)) biosynthesis, making it essential for the survival of all organisms.
Identification of the nicotinamide mononucleotide adenylyltransferase of Trypanosoma cruzi.
New
Ramírez et al., Bogotá, Colombia. In Mem Inst Oswaldo Cruz, Nov 2015
NAD+biosynthesis is performed by de novo and salvage pathways, which converge on the step that is catalysed by the enzyme nicotinamide mononucleotide adenylyltransferase (NMNAT) (enzyme commission number: 2.7.7.1).
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Review
New
Neugebauer et al., Köln, Germany. In Graefes Arch Clin Exp Ophthalmol, Nov 2015
In recent studies, biallelic mutations in NMNAT1 encoding nicotinamide mononucleotide adenylyltransferase 1 have been found to cause LCA.
Nicotinamide mononucleotide adenylyltransferase displays alternate binding modes for nicotinamide nucleotides.
New
Saridakis et al., Toronto, Canada. In Acta Crystallogr D Biol Crystallogr, Oct 2015
Nicotinamide mononucleotide adenylyltransferase (NMNAT) catalyzes the biosynthesis of NAD(+) and NaAD(+).
Autophagy in axonal degeneration in glaucomatous optic neuropathy.
Review
New
Kitaoka et al., Kawasaki, Japan. In Prog Retin Eye Res, Jul 2015
In this review, we attempt to describe the relationship between autophagy and recently reported noteworthy factors including Nmnat, ROCK, and SIRT1 in the degeneration of RGCs and their axons and propose possible mechanisms of axonal protection via modulation of autophagy machinery.
Nmnat1-Rbp7 Is a Conserved Fusion-Protein That Combines NAD+ Catalysis of Nmnat1 with Subcellular Localization of Rbp7.
Meyer et al., Innsbruck, Austria. In Plos One, 2014
Further, we describe a novel nmnat1-rbp7 transcript encoding a fusion of Rbp7 and the NAD+ (Nicotinamide adenine dinucleotide) synthesizing enzyme Nmnat1.
Alternative splicing of Drosophila Nmnat functions as a switch to enhance neuroprotection under stress.
Zhai et al., Miami, United States. In Nat Commun, 2014
Nicotinamide mononucleotide adenylyltransferase (NMNAT) is a conserved enzyme in the NAD synthetic pathway.
Wallerian degeneration: an emerging axon death pathway linking injury and disease.
Review
Impact
Coleman et al., Nottingham, United Kingdom. In Nat Rev Neurosci, 2014
Nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) is essential for axon growth and survival.
[Tumor necrosis factor-induced optic nerve degeneration and axonal protection].
Review
Kitaoka, Kawasaki, Japan. In Nihon Ganka Gakkai Zasshi, 2013
Brain-derived neurotrophic factor and the amyloidogenic pathway may play important roles in glial events, while nicotinamide mononucleotide adenylyltransferase 1 and thioredoxin 1 may play important roles within axons.
NMNATs, evolutionarily conserved neuronal maintenance factors.
Review
Lu et al., Houston, United States. In Trends Neurosci, 2013
We review evidence that NMNATs protect neurons through multiple mechanisms in different contexts, and highlight functions that either require or are independent of NMNAT catalytic activity.
NMNAT1 mutations cause Leber congenital amaurosis.
Impact
GeneRIF
Pierce et al., Philadelphia, United States. In Nat Genet, 2012
NMNAT1 mutations cause Leber congenital amaurosis.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Impact
GeneRIF
Chen et al., Montréal, Canada. In Nat Genet, 2012
A new disease mechanism underlying Leber congential amaurosis and the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder.
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Impact
GeneRIF
Rozet et al., Paris, France. In Nat Genet, 2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Impact
GeneRIF
Qi et al., Portland, United States. In Nat Genet, 2012
NMNAT1 mutations as a cause of Leber congenital amaurosis.
A novel Drosophila model of nerve injury reveals an essential role of Nmnat in maintaining axonal integrity.
GeneRIF
Bonini et al., Philadelphia, United States. In Curr Biol, 2012
These findings demonstrate an essential role of endogenous Nmnat in maintaining axonal integrity that may rely on and function by stabilizing mitochondria.
share on facebooktweetadd +1mail to friends