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NMNAT1 encodes an enzyme which catalyzes a key step in the biosynthesis of the coenzyme NAD. 再加上，我们可以发NMNAT1 抗体 (81) 和 NMNAT1 蛋白 (16)和数多这个蛋白质的别的产品。
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Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR (显示 UTS2R ELISA试剂盒) Mutations and Copy-Number Variations of NMNAT1.
We confirmed a diagnosis of NMNAT1-associated Leber congenital amaurosis in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state.
NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA (显示 CLTA ELISA试剂盒)-causing genes. Our results expanded the spectrum of mutations in NMNAT1
To study how mutations affect NMNAT1 function and ultimately lead to a retinal degeneration phenotype, we performed detailed analysis of Leber congenital amaurosis 9-associated NMNAT1 mutants.
theNMNAT1 p.Glu257Lys variant is a hypomorphic variant that almost without exception causes leber congenital amaurosis (LCA (显示 CLTA ELISA试剂盒)) in combination with more severe NMNAT1 variants.
The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies.
Data found pathogenic DNA variants in the genes RP1 (显示 STK19 ELISA试剂盒), USH2A (显示 USH2A ELISA试剂盒), CNGB3 (显示 CNGB3 ELISA试剂盒), NMNAT1, CHM (显示 CHM ELISA试剂盒), and ABCA4 (显示 ABCA4 ELISA试剂盒), responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia (显示 CHM ELISA试剂盒), or recessive Stargardt/cone-rod dystrophy cases.
NMNAT1 deletion in tumors may contribute to transformation by increasing ribosomal RNA synthesis.
mutations in nicotinamide nucleotide adenylyltransferase 1(NMNAT1) cause Leber congenital amaurosis
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Using steady-state and flux analysis of NAD(+) metabolites in healthy and injured mouse dorsal root ganglion axons, we find that rather than altering NAD(+) synthesis, NMNAT1 instead blocks the injury-induced, SARM1-dependent NAD(+) consumption that is central to axon degeneration.
NMNAT1 overexpression enhanced AMPK (显示 PRKAA1 ELISA试剂盒) activity in oxygen-glucose deprivation treated cortical neurons
An increased level of Nmnat protein in hiw mutants is both required and sufficient to inhibit axonal degeneration.
Overexpression of Nmnat1 in the cytoplasm and axons of RGCs robustly protected against both ischemic and glaucomatous loss of RGC axonal integrity, as well as loss of RGC soma.
Findings reveal a novel role for NMNAT1 in the morphogenesis of developing cortical neurons, which indicate that the loss of function of NMNAT1 may contribute to different neurodegenerative disorders in central nervous system.
Nicotinamide mononucleotide adenylyl transferase 1 protects against acute neurodegeneration in developing CNS by inhibiting excitotoxic-necrotic cell death.
NMNAT1 is indispensable for the normal development of the embryo. Decreased NMNAT1 activity in heterozygous null mice does not affect the rate of Wallerian degeneration, suggesting that endogenous NMNAT1 does not have a primary role in axon maintenance.
nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons blocks axonal degeneration
Through NAMPT (显示 NAMPT ELISA试剂盒) activity, visfatin (显示 NAMPT ELISA试剂盒) contributes to vascular inflammation, causing atherothrombotic diseases linked to metabolic disorders.
demonstrated that increased Nmnat activity is responsible for the axon-sparing activity of the Wlds protein; also demonstrated that SIRT1 (显示 SIRT1 ELISA试剂盒) is the downstream effector of increased Nmnat activity that leads to
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.
nicotinamide mononucleotide adenylyltransferase 1
, Nicotinamide mononucleotide adenylyltransferase 1
, NMN adenylyltransferase 1
, NaMN adenylyltransferase 1
, nicotinate-nucleotide adenylyltransferase 1
, pyridine nucleotide adenylyltransferase 1
, naMN adenylyltransferase 1
, NAD(+) diphosphorylase
, NAD(+) pyrophosphorylase
, deamido-NAD(+) diphosphorylase
, deamido-NAD(+) pyrophosphorylase
, nicotinamide mononucleotide adenylyl transferase
, nicotinamide/nicotinate mononucleotide adenylyltransferase 1
, nicotinamide mononucleotide adenylyl transferase 1