NMNAT1 Antibody

1. Rare homozygous variant c.[271G > A] p.(Glu91Lys) and compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys) were identified in two cases of cone-rod dystrophy, respectively. PMID: 29184169
2. Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene. PMID: 28369829
3. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. PMID: 26316326
4. 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. PMID: 26464178
5. NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1 PMID: 25988908
6. 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. PMID: 26018082
7. theNMNAT1 p.Glu257Lys variant is a hypomorphic variant that almost without exception causes leber congenital amaurosis (LCA) in combination with more severe NMNAT1 variants. PMID: 24830548
8. 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. PMID: 24940029
9. NMNAT1 deletion in tumors may contribute to transformation by increasing ribosomal RNA synthesis. PMID: 23737528
10. mutations in nicotinamide nucleotide adenylyltransferase 1(NMNAT1) cause Leber congenital amaurosis PMID: 23351689
11. Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. PMID: 22842229
12. A new disease mechanism underlying Leber congential amaurosis and the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder. PMID: 22842230
13. Our studies link the enzymatic activities of NMNAT-1 and PARP-1 to the regulation of a set of common target genes through functional interactions at target gene promoters. PMID: 22334709
14. Study investigated the importance of NMNAT2's central domain, which are postulated to be dispensable for catalytic activity, instead representing an isozyme-specific control domain within the overall architecture of NMNAT2. PMID: 20954240
15. nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons blocks axonal degeneration PMID: 21071441
16. Neuronal expression of exogenous Nmnat1 protein localized to the cytosol is essential and sufficient to delay Wallerian degeneration; cytosolic Nmnat1 showed greatly enhanced axon protection compared with native (nuclear) Nmnat1. PMID: 19458223
17. Axonal targeting of transgenic NMNAT activity is both necessary and sufficient to delay Wallerian degeneration; promoting axonal and synaptic delivery greatly enhances NMNAT1 effectiveness. PMID: 20926655
18. Red blood cells represent the first human cell type with a remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent. PMID: 20457531
19. analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases PMID: 20388704
20. By using a combination of single isomorphous replacement and density modification techniques, the human NMNAT structure was solved by x-ray crystallography to a 2.5-A resolution, revealing a hexamer that is composed of alpha/beta-topology subunits PMID: 11751893
21. structure determination and role in activating tiazofurin PMID: 11788603
22. Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. PMID: 11959140
23. structural characterization of this human cytosolic enzyme and implicatons in NAD biosyntheesis PMID: 12574164
24. NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are localized to the Golgi complex and the mitochondria PMID: 16118205
25. depending on its state of phosphorylation, NMNAT-1 binds to activated, automodifying PARP-1 and thereby amplifies poly(ADP-ribosyl)ation PMID: 17360427
26. ATP binds before NMN with nuclear isozyme NMNAT1. NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar rates, conversion by NMNAT2 is much slower. PMID: 17402747
27. Nicotinamide mononucleotide adenylyl transferase 1 (Nmnat1) is important for axonal protection, since mutants with reduced enzymatic activity lack axon protective activity. PMID: 19403820

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HGNC: 17877

OMIM: 608553

KEGG: hsa:64802

STRING: 9606.ENSP00000366410

UniGene: Hs.633762