| Lactate enhances NMNAT1 lactylation to sustain nuclear NAD[+] salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions. | Lactate enhances NMNAT1 lactylation to sustain nuclear NAD(+) salvage pathway and promote survival of pancreatic adenocarcinoma cells under glucose-deprived conditions.
Huang H, Wang S, Xia H, Zhao X, Chen K, Jin G, Zhou S, Lu Z, Chen T, Yu H, Zheng X, Huang H, Lan L. | 04/12/2024 |
| NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants. | NMNAT1 and hereditary spastic paraplegia (HSP): expanding the phenotypic spectrum of NMNAT1 variants.
Sadr Z, Ghasemi A, Rohani M, Alavi A. | 04/12/2023 |
| Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration. | Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.
Yi Z, Li S, Wang S, Xiao X, Sun W, Zhang Q., Free PMC Article | 11/26/2022 |
| Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells. | Nuclear NAD(+) homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells.
Shi X, Jiang Y, Kitano A, Hu T, Murdaugh RL, Li Y, Hoegenauer KA, Chen R, Takahashi K, Nakada D., Free PMC Article | 04/16/2022 |
| Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis. | Coats-like Exudative Vitreoretinopathy in NMNAT1 Leber Congenital Amaurosis.
Han J, Kim TY, Kim M. | 01/15/2022 |
| A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. | A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM.
Kumaran N, Robson AG, Michaelides M. | 10/23/2021 |
| An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs. | An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.
Bedoni N, Quinodoz M, Pinelli M, Cappuccio G, Torella A, Nigro V, Testa F, Simonelli F, TUDP (Telethon Undiagnosed Disease Program), Corton M, Lualdi S, Lanza F, Morana G, Ayuso C, Di Rocco M, Filocamo M, Banfi S, Brunetti-Pierri N, Superti-Furga A, Rivolta C. | 08/21/2021 |
| 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. | NMNAT1 variants cause cone and cone-rod dystrophy.
Nash BM, Symes R, Goel H, Dinger ME, Bennetts B, Grigg JR, Jamieson RV., Free PMC Article | 12/22/2018 |
| 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. | Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype.
Khan AO, Budde BS, Nürnberg P, Kawalia A, Lenzner S, Bolz HJ. | 08/11/2018 |
| Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. | Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E., Free PMC Article | 08/20/2016 |
| 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. | Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A, Volk AE, Herkenrath P, Thiele H, Fricke J, Altmüller J, Nürnberg P, Kubisch C, Neugebauer A. | 06/11/2016 |
| 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 | A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
Deng Y, Huang H, Wang Y, Liu Z, Li N, Chen Y, Li X, Li M, Zhou X, Mu D, Zhong J, Wu J, Su Y, Yi X, Zhu J. | 10/3/2015 |
| 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. | Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y, Margolin Z, Borgo B, Havranek JJ, Milbrandt J., Free PMC Article | 10/3/2015 |
| theNMNAT1 p.Glu257Lys variant is a hypomorphic variant that almost without exception causes leber congenital amaurosis (LCA) in combination with more severe NMNAT1 variants. | Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1.
Siemiatkowska AM, Schuurs-Hoeijmakers JH, Bosch DG, Boonstra FN, Riemslag FC, Ruiter M, de Vries BB, den Hollander AI, Collin RW, Cremers FP. | 10/25/2014 |
| 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. | Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.
Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP., Free PMC Article | 10/4/2014 |
| Data found pathogenic DNA variants in the genes RP1, USH2A, CNGB3, NMNAT1, CHM, and ABCA4, responsible for retinitis pigmentosa, Usher syndrome, achromatopsia, Leber congenital amaurosis, choroideremia, or recessive Stargardt/cone-rod dystrophy cases. | Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C., Free PMC Article | 01/18/2014 |
| NMNAT1 deletion in tumors may contribute to transformation by increasing ribosomal RNA synthesis. | The NAD+ synthesis enzyme nicotinamide mononucleotide adenylyltransferase (NMNAT1) regulates ribosomal RNA transcription.
Song T, Yang L, Kabra N, Chen L, Koomen J, Haura EB, Chen J., Free PMC Article | 11/30/2013 |
| mutations in nicotinamide nucleotide adenylyltransferase 1(NMNAT1) cause Leber congenital amaurosis | [Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
Kaplan J, Perrault I, Hanein S, Dollfus H, Rozet JM. | 04/6/2013 |
| 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 and identify a new disease pathway for retinal degeneration.
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Finding of Rare Disease Genes (FORGE) Canada Consortium, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R., Free PMC Article | 11/24/2012 |
| Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. | Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Perrault I, Hanein S, Zanlonghi X, Serre V, Nicouleau M, Defoort-Delhemmes S, Delphin N, Fares-Taie L, Gerber S, Xerri O, Edelson C, Goldenberg A, Duncombe A, Le Meur G, Hamel C, Silva E, Nitschke P, Calvas P, Munnich A, Roche O, Dollfus H, Kaplan J, Rozet JM. | 11/24/2012 |
| 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. | Regulation of poly(ADP-ribose) polymerase-1-dependent gene expression through promoter-directed recruitment of a nuclear NAD+ synthase.
Zhang T, Berrocal JG, Yao J, DuMond ME, Krishnakumar R, Ruhl DD, Ryu KW, Gamble MJ, Kraus WL., Free PMC Article | 06/9/2012 |
| 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. | Homology modeling and deletion mutants of human nicotinamide mononucleotide adenylyltransferase isozyme 2: new insights on structure and function relationship.
Brunetti L, Di Stefano M, Ruggieri S, Cimadamore F, Magni G., Free PMC Article | 03/12/2011 |
| nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons blocks axonal degeneration | Axonal degeneration is blocked by nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons.
Sasaki Y, Milbrandt J., Free PMC Article | 02/26/2011 |
| 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. | Transgenic mice expressing the Nmnat1 protein manifest robust delay in axonal degeneration in vivo.
Sasaki Y, Vohra BP, Baloh RH, Milbrandt J., Free PMC Article | 02/18/2011 |
| Axonal targeting of transgenic NMNAT activity is both necessary and sufficient to delay Wallerian degeneration; promoting axonal and synaptic delivery greatly enhances NMNAT1 effectiveness. | Targeting NMNAT1 to axons and synapses transforms its neuroprotective potency in vivo.
Babetto E, Beirowski B, Janeckova L, Brown R, Gilley J, Thomson D, Ribchester RR, Coleman MP., Free PMC Article | 10/30/2010 |