Citations for
1LCA9, NMNAT1
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Greenwald SH, Charette JR, Staniszewska M, Shi LY, Brown SD, Stone L, Liu Q, Hicks WL, Collin GB, Bowl MR, Krebs MP, Nishina PM, Pierce EA.
Am J Pathol 186(7):1925-38. doi: 10.1016/j.ajpath.2016.03.013. Epub 2016 May 18. 2016
2NMNAT1
Nmnat 1: a Security Guard of Retinal Ganglion Cells (RGCs) in Response to High Glucose Stress.
Zhou RM, Shen Y, Yao J, Yang H, Shan K, Li XM, Jiang Q, Yan B.
Cell Physiol Biochem 38(6):2207-18. doi: 10.1159/000445576. Epub 2016 May 17. 2016
3NMNAT1
Nicotinamide mononucleotide adenylyltransferase promotes hypoxic survival by activating the mitochondrial unfolded protein response.
Mao XR, Kaufman DM, Crowder CM.
Cell Death Dis 7:e2113. doi: 10.1038/cddis.2016.5. 2016
4LCA9, 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.
Hum Mutat 36(12):1188-96. doi: 10.1002/humu.22899. Epub 2015 Oct 1. 2015
5LCA9, NMNAT1
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y, Margolin Z, Borgo B, Havranek JJ, Milbrandt J.
J Biol Chem 290(28):17228-38. doi: 10.1074/jbc.M115.637850. Epub 2015 May 27. 2015
6LCA9, NMNAT1
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.
JAMA Ophthalmol 132(8):1002-4. doi: 10.1001/jamaophthalmol.2014.983. 2014
7NMNAT1
Axonal transport plays a crucial role in mediating the axon-protective effects of NmNAT.
Fang C, Decker H, Banker G.
Neurobiol Dis 68:78-90. doi: 10.1016/j.nbd.2014.04.013. Epub 2014 Apr 28. 2014
8NMNAT1, RRP8, SIRT1
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.
J Biol Chem 288(29):20908-17. doi: 10.1074/jbc.M113.470302. Epub 2013 Jun 4. 2013
9LCA9, NMNAT1
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M.
Nat Genet at Genet. 2012 2012
10LCA9, NMNAT1
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.
Nat Genet 44(9):975-7. doi: 10.1038/ng.2357. Epub 2012 Jul 29. 2012
11NMNAT1, PARP1
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.
J Biol Chem 287(15):12405-16. doi: 10.1074/jbc.M111.304469. Epub 2012 Feb 13. 2012
12NMNAT1
Nicotinamide mononucleotide adenylyl transferase 1 protects against acute neurodegeneration in developing CNS by inhibiting excitotoxic-necrotic cell death.
Verghese PB, Sasaki Y, Yang D, Stewart F, Sabar F, Finn MB, Wroge CM, Mennerick S, Neil JJ, Milbrandt J, Holtzman DM.
Proc Natl Acad Sci U S A 108(47):19054-9. doi: 10.1073/pnas.1107325108. Epub 2011 Nov 4. 2011
13NMNAT1
Axonal degeneration is blocked by nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons.
Sasaki Y, Milbrandt J.
J Biol Chem 285(53):41211-5. doi: 10.1074/jbc.C110.193904. Epub 2010 Nov 11. 2010
14NMNAT1
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.
J Neurosci 30(40):13291-304. doi: 10.1523/JNEUROSCI.1189-10.2010. 2010
15NMNAT1, NMNAT2, NMNAT3
Unique expression pattern of human nicotinamide mononucleotide adenylyltransferase isozymes in red blood cells.
Di Stefano M, Galassi L, Magni G.
Blood Cells Mol Dis 45(1):33-9. doi: 10.1016/j.bcmd.2010.04.003. Epub 2010 May 10. 2010
16NMNAT1, NMNAT2, NMNAT3
Nicotinamide mononucleotide adenylyltransferase expression in mitochondrial matrix delays Wallerian degeneration.
Yahata N, Yuasa S, Araki T.
J Neurosci 29(19):6276-84. doi: 10.1523/JNEUROSCI.4304-08.2009. 2009
17NMNAT1, NMNAT3
Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.
Sorci L, Cimadamore F, Scotti S, Petrelli R, Cappellacci L, Franchetti P, Orsomando G, Magni G.
Biochemistry 46(16):4912-22. Epub 2007 Apr 3. 2007
18NMNAT1
Regulation of poly(ADP-ribose) polymerase 1 activity by the phosphorylation state of the nuclear NAD biosynthetic enzyme NMN adenylyl transferase 1.
Berger F, Lau C, Ziegler M.
Proc Natl Acad Sci U S A 104(10):3765-70. Epub 2007 Feb 22. 2007
19NMNAT1, NMNAT2, NMNAT3
Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.
Berger F, Lau C, Dahlmann M, Ziegler M.
J Biol Chem 280(43):36334-41. Epub 2005 Aug 23. 2005
20NMNAT1, NMNAT2
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
Yalowitz JA, Xiao S, Biju MP, Antony AC, Cummings OW, Deeg MA, Jayaram HN.
Biochem J 377(Pt 2):317-26. 2004
21NMNAT1, NMNAT3, NMNATP
Structural Characterization of a Human Cytosolic NMN/NaMN Adenylyltransferase and Implication in Human NAD Biosynthesis.
Zhang X, Kurnasov OV, Karthikeyan S, Grishin NV, Osterman AL, Zhang H.
J Biol Chem 278(15):13503-11. Epub 2003 Feb 06. 2003
22NMNAT1
Structure of human NMN adenylyltransferase. A key nuclear enzyme for NAD homeostasis.
Garavaglia S, D'Angelo I, Emanuelli M, Carnevali F, Pierella F, Magni G, Rizzi M.
J Biol Chem 277(10):8524-30. Epub 2001 Dec 19. 2002
23NMNAT1
Human homologue of a gene mutated in the slow Wallerian degeneration (C57BL/Wld(s)) mouse.
Fernando FS, Conforti L, Tosi S, Smith AD, Coleman MP.
Gene 284(1-2):23-9. 2002