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Items: 1 to 20 of 71

1.
Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration
Zhen Yi, Shiqiang Li, Siyu Wang, Xueshan Xiao, Wenmin Sun, Qingjiong Zhang
Eye (Lond) 2022 Dec; 36(12): 2279–2285. Published online 2021 Nov 26. doi: 10.1038/s41433-021-01853-y
PMCID:
PMC9674661
AbstractArticlePDF–1.0M
2.
NMNAT1 variants cause cone and cone-rod dystrophy
Benjamin M. Nash, Richard Symes, Himanshu Goel, Marcel E. Dinger, Bruce Bennetts, John R. Grigg, Robyn V. Jamieson
Eur J Hum Genet. 2018 Mar; 26(3): 428–433. Published online 2017 Nov 28. doi: 10.1038/s41431-017-0029-7
PMCID:
PMC5839026
AbstractArticlePDF–915K
3.
Hidden Genetic Variation in LCA9‐Associated Congenital Blindness Explained by 5′UTR Mutations and Copy‐Number Variations of NMNAT1
Frauke Coppieters, Anne Laure Todeschini, Takuro Fujimaki, Annelot Baert, Marieke De Bruyne, Caroline Van Cauwenbergh, Hannah Verdin, Miriam Bauwens, Maté Ongenaert, Mineo Kondo, Françoise Meire, Akira Murakami, Reiner A. Veitia, Bart P. Leroy, Elfride De Baere
Hum Mutat. 2015 Dec; 36(12): 1188–1196. Published online 2015 Oct 1. doi: 10.1002/humu.22899
PMCID:
PMC5054839
AbstractArticlePDF–839K
4.
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants
Yo Sasaki, Zachary Margolin, Benjamin Borgo, James J. Havranek, Jeffrey Milbrandt
J Biol Chem. 2015 Jul 10; 290(28): 17228–17238. Published online 2015 May 27. doi: 10.1074/jbc.M115.637850
PMCID:
PMC4498062
AbstractArticlePDF–3.4M
5.
Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
Anna M. Siemiatkowska, L. Ingeborgh van den Born, Maria M. van Genderen, Mette Bertelsen, Ditta Zobor, Klaus Rohrschneider, Ramon A.C. van Huet, Siska Nurohmah, B. Jeroen Klevering, Susanne Kohl, Sultana M.H. Faradz, Thomas Rosenberg, Anneke I. den Hollander, Rob W.J. Collin, Frans P.M. Cremers
Mol Vis. 2014; 20: 753–759. Published online 2014 Jun 2.
PMCID:
PMC4043607
AbstractArticlePDF–567K
6.
NMNATs, Evolutionarily Conserved Neuronal Maintenance Factors
Yousuf O. Ali, David Li-Kroeger, Hugo J. Bellen, R. Grace Zhai, Hui-Chen Lu
Trends Neurosci. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: Trends Neurosci. 2013 Nov; 36(11): 10.1016/j.tins.2013.07.002. Published online 2013 Aug 20. doi: 10.1016/j.tins.2013.07.002
PMCID:
PMC3857727
AbstractArticlePDF–2.6M
7.
The NAD+ Synthesis Enzyme Nicotinamide Mononucleotide Adenylyltransferase (NMNAT1) Regulates Ribosomal RNA Transcription
Tanjing Song, Leixiang Yang, Neha Kabra, Lihong Chen, John Koomen, Eric B. Haura, Jiandong Chen
J Biol Chem. 2013 Jul 19; 288(29): 20908–20917. Published online 2013 Jun 4. doi: 10.1074/jbc.M113.470302
PMCID:
PMC3774361
AbstractArticlePDF–2.4M
8.
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration
Robert K. Koenekoop, Hui Wang, Jacek Majewski, Xia Wang, Irma Lopez, Huanan Ren, Yiyun Chen, Yumei Li, Gerald A. Fishman, Mohammed Genead, Jeremy Schwartzentruber, Naimesh Solanki, Elias I. Traboulsi, Jingliang Cheng, Clare V. Logan, Martin McKibbin, Bruce E. Hayward, David A. Parry, Colin A. Johnson, Mohammed Nageeb, Finding of Rare Disease Genes (FORGE) Canada Consortium, James A. Poulter, Moin D. Mohamed, Hussain Jafri, Yasmin Rashid, Graham R. Taylor, Vafa Keser, Graeme Mardon, Huidan Xu, Chris F. Inglehearn, Qing Fu, Carmel Toomes, Rui Chen
Nat Genet. Author manuscript; available in PMC 2013 May 20.
Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1035–1039. Published online 2012 Jul 29. doi: 10.1038/ng.2356
PMCID:
PMC3657614
AbstractArticlePDF–1.4M
9.
NMNAT1 mutations cause Leber congenital amaurosis
Marni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, Chitra Kannabiran, Zoe Fonseca-Kelly, Christina Chakarova, Isabelle Audo, Donna S Mackay, Christina Zeitz, Arundhati Dev Borman, Magdalena Staniszewska, Rachna Shukla, Lakshmi Palavalli, Saddek Mohand-Said, Naushin H Waseem, Subhadra Jalali, Juan C Perin, Emily Place, Julian Ostrovsky, Rui Xiao, Shomi S Bhattacharya, Mark Consugar, Andrew R Webster, José-Alain Sahel, Anthony T Moore, Eliot L Berson, Qin Liu, Xiaowu Gai, Eric A. Pierce
Nat Genet. Author manuscript; available in PMC 2013 Mar 1.
Published in final edited form as: Nat Genet. 2012 Sep; 44(9): 1040–1045. Published online 2012 Jul 29. doi: 10.1038/ng.2361
PMCID:
PMC3454532
AbstractArticlePDF–915K
10.
Nuclear NAD+ homeostasis governed by NMNAT1 prevents apoptosis of acute myeloid leukemia stem cells
Xiangguo Shi, Yajian Jiang, Ayumi Kitano, Tianyuan Hu, Rebecca L. Murdaugh, Yuan Li, Kevin A. Hoegenauer, Rui Chen, Koichi Takahashi, Daisuke Nakada
Sci Adv. 2021 Jul; 7(30): eabf3895. Published online 2021 Jul 21. doi: 10.1126/sciadv.abf3895
PMCID:
PMC8294764
AbstractArticlePDF–691K
11.
Targeting NMNAT1 to Axons and Synapses Transforms Its Neuroprotective Potency In Vivo
Elisabetta Babetto, Bogdan Beirowski, Lucie Janeckova, Rosalind Brown, Jonathan Gilley, Derek Thomson, Richard R. Ribchester, Michael P. Coleman
J Neurosci. 2010 Oct 6; 30(40): 13291–13304. doi: 10.1523/JNEUROSCI.1189-10.2010
PMCID:
PMC6634738
AbstractArticlePDF–4.0M
12.
Regulation of Poly(ADP-ribose) Polymerase-1-dependent Gene Expression through Promoter-directed Recruitment of a Nuclear NAD+ Synthase
Tong Zhang, Jhoanna G. Berrocal, Jie Yao, Michelle E. DuMond, Raga Krishnakumar, Donald D. Ruhl, Keun Woo Ryu, Matthew J. Gamble, W. Lee Kraus
J Biol Chem. 2012 Apr 6; 287(15): 12405–12416. Published online 2012 Feb 13. doi: 10.1074/jbc.M111.304469
PMCID:
PMC3320990
AbstractArticlePDF–1.7M
13.
Nicotinamide mononucleotide adenylyl transferase 1 protects against acute neurodegeneration in developing CNS by inhibiting excitotoxic-necrotic cell death
Philip B. Verghese, Yo Sasaki, Donghan Yang, Floy Stewart, Fatima Sabar, Mary Beth Finn, Christine M. Wroge, Steven Mennerick, Jeffrey J. Neil, Jeffrey Milbrandt, David M. Holtzman
Proc Natl Acad Sci U S A. 2011 Nov 22; 108(47): 19054–19059. Published online 2011 Nov 4. doi: 10.1073/pnas.1107325108
PMCID:
PMC3223466
AbstractArticlePDF–989K
14.
Axonal Degeneration Is Blocked by Nicotinamide Mononucleotide Adenylyltransferase (Nmnat) Protein Transduction into Transected Axons
Yo Sasaki, Jeffrey Milbrandt
J Biol Chem. 2010 Dec 31; 285(53): 41211–41215. Published online 2010 Nov 11. doi: 10.1074/jbc.C110.193904
PMCID:
PMC3009846
AbstractArticlePDF–2.1M
15.
Transgenic Mice Expressing the Nmnat1 Protein Manifest Robust Delay in Axonal Degeneration In Vivo
Yo Sasaki, Bhupinder P. S. Vohra, Robert H. Baloh, Jeffrey Milbrandt
J Neurosci. 2009 May 20; 29(20): 6526–6534. doi: 10.1523/JNEUROSCI.1429-09.2009
PMCID:
PMC2697066
AbstractArticlePDF–1.3M
16.
Regulation of poly(ADP-ribose) polymerase 1 activity by the phosphorylation state of the nuclear NAD biosynthetic enzyme NMN adenylyl transferase 1
Felicitas Berger, Corinna Lau, Mathias Ziegler
Proc Natl Acad Sci U S A. 2007 Mar 6; 104(10): 3765–3770. Published online 2007 Feb 22. doi: 10.1073/pnas.0609211104
PMCID:
PMC1820658
AbstractArticlePDF–444K
17.
Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.
Joel A Yalowitz, Suhong Xiao, Mangatt P Biju, Aśok C Antony, Oscar W Cummings, Mark A Deeg, Hiremagalur N Jayaram
Biochem J. 2004 Jan 15; 377(Pt 2): 317–326. doi: 10.1042/BJ20030518
PMCID:
PMC1223862
SummaryPDF–421K
18.
Nicotinamide Mononucleotide Adenylyl Transferase-Mediated Axonal Protection Requires Enzymatic Activity But Not Increased Levels of Neuronal Nicotinamide Adenine Dinucleotide
Yo Sasaki, Bhupinder P. S. Vohra, Frances E. Lund, Jeffrey Milbrandt
J Neurosci. 2009 Apr 29; 29(17): 5525–5535. doi: 10.1523/JNEUROSCI.5469-08.2009
PMCID:
PMC3162248
AbstractArticlePDF–2.3M
19.
Nmnat exerts neuroprotective effects in dendrites and axons
Yuhui Wen, Jay Z. Parrish, Ruina He, R. Grace Zhai, Michael D. Kim
Mol Cell Neurosci. Author manuscript; available in PMC 2012 Sep 1.
Published in final edited form as: Mol Cell Neurosci. 2011 Sep; 48(1): 1–8. Published online 2011 May 9. doi: 10.1016/j.mcn.2011.05.002
PMCID:
PMC3152617
AbstractArticlePDF–1.6M
20.
Homology modeling and deletion mutants of human nicotinamide mononucleotide adenylyltransferase isozyme 2: New insights on structure and function relationship
Lucia Brunetti, Michele Di Stefano, Silverio Ruggieri, Flavio Cimadamore, Giulio Magni
Protein Sci. 2010 Dec; 19(12): 2440–2450. Published online 2010 Oct 15. doi: 10.1002/pro.526
PMCID:
PMC3009411
AbstractArticlePDF–626K

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