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There are 5896004 results for: content related to: Novel NMNAT1 mutations causing Leber congenital amaurosis identified

  1. You have full text access to this OnlineOpen article
    Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations of NMNAT1

    Human Mutation

    Volume 36, Issue 12, December 2015, Pages: 1188–1196, 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 and Elfride De Baere

    Version of Record online : 1 OCT 2015, DOI: 10.1002/humu.22899

  2. You have free access to this content
    Diversification of NAD biological role : the importance of location

    The FEBS Journal

    Volume 280, Issue 19, October 2013, Pages: 4711–4728, Michele Di Stefano and Laura Conforti

    Version of Record online : 1 AUG 2013, DOI: 10.1111/febs.12433

  3. You have free access to this content
    A new coral-associated decapod assemblage from the Upper Miocene (Messinian) Upper Coralline Limestone of Malta (Central Mediterranean)

    Palaeontology

    Volume 53, Issue 6, November 2010, Pages: 1315–1348, MICHAEL GATT and ANTONIO DE ANGELI

    Version of Record online : 16 NOV 2010, DOI: 10.1111/j.1475-4983.2010.01008.x

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    Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration

    The FEBS Journal

    Volume 278, Issue 15, August 2011, Pages: 2666–2679, Laura Conforti, Lucie Janeckova, Diana Wagner, Francesca Mazzola, Lucia Cialabrini, Michele Di Stefano, Giuseppe Orsomando, Giulio Magni, Caterina Bendotti, Neil Smyth and Michael Coleman

    Version of Record online : 14 JUN 2011, DOI: 10.1111/j.1742-4658.2011.08193.x

  5. Genome-wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1-related fundus phenotype

    Clinical Genetics

    Accepted manuscript online: 30 MAR 2017, Arif O. Khan, Birgit S. Budde, Peter Nürnberg, Amit Kawalia, Steffen Lenzner and Hanno J. Bolz

    DOI: 10.1111/cge.13022

  6. Phylogeny of the Zoroasteridae (Zorocallina; Forcipulatida): evolutionary events in deep-sea Asteroidea displaying Palaeozoic features

    Zoological Journal of the Linnean Society

    Volume 150, Issue 1, May 2007, Pages: 177–210, CHRISTOPHER MAH

    Version of Record online : 25 APR 2007, DOI: 10.1111/j.1096-3642.2007.00291.x

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    Nicotinamide mononucleotide adenylyltransferase maintains active zone structure by stabilizing Bruchpilot

    EMBO reports

    Volume 14, Issue 1, January 2013, Pages: 87–94, Shaoyun Zang, Yousuf O Ali, Kai Ruan and R Grace Zhai

    Version of Record online : 16 NOV 2012, DOI: 10.1038/embor.2012.181

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    Homology modeling and deletion mutants of human nicotinamide mononucleotide adenylyltransferase isozyme 2: New insights on structure and function relationship

    Protein Science

    Volume 19, Issue 12, December 2010, Pages: 2440–2450, Lucia Brunetti, Michele Di Stefano, Silverio Ruggieri, Flavio Cimadamore and Giulio Magni

    Version of Record online : 18 NOV 2010, DOI: 10.1002/pro.526

  9. A revision of the New World eximius lineage of Anelosimus (Araneae, Theridiidae) and a phylogenetic analysis using worldwide exemplars

    Zoological Journal of the Linnean Society

    Volume 146, Issue 4, April 2006, Pages: 453–593, INGI AGNARSSON

    Version of Record online : 18 APR 2006, DOI: 10.1111/j.1096-3642.2006.00213.x

  10. Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype–Phenotype Correlations

    Human Mutation

    Volume 34, Issue 11, November 2013, Pages: 1537–1546, Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, [LCA5 Study Group (see Acknowledgments for Universities), Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramesar, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger], Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore and Robert K. Koenekoop

    Version of Record online : 17 SEP 2013, DOI: 10.1002/humu.22398

  11. Molecular mechanisms in the initiation phase of Wallerian degeneration

    European Journal of Neuroscience

    Volume 44, Issue 4, August 2016, Pages: 2040–2048, Biao Chang, Qi Quan, Shibi Lu, Yu Wang and Jiang Peng

    Version of Record online : 30 MAY 2016, DOI: 10.1111/ejn.13250

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    Characterization of recombinant human nicotinamide mononucleotide adenylyl transferase (NMNAT), a nuclear enzyme essential for NAD synthesis

    FEBS Letters

    Volume 492, Issue 1-2, March 09, 2001, Pages: 95–100, Manfred Schweiger, Klaus Hennig, Felicitas Lerner, Marc Niere, Monica Hirsch-Kauffmann, Thomas Specht, Christoph Weise, Shiao Li Oei and Mathias Ziegler

    Version of Record online : 7 MAR 2001, DOI: 10.1016/S0014-5793(01)02180-9

  13. Systematics of Otarrha, a new Neotropical subgenus of Chimarra (Trichoptera: Philopotamidae)

    Systematic Entomology

    Volume 27, Issue 1, February 2002, Pages: 65–130, Roger J. Blahnik

    Version of Record online : 6 MAR 2002, DOI: 10.1046/j.0307-6970.2001.00166.x

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    Chaperoning the synapse—NMNAT protects Bruchpilot from crashing

    EMBO reports

    Volume 14, Issue 1, January 2013, Pages: 5–6, Elsa Lauwers and Patrik Verstreken

    Version of Record online : 30 NOV 2012, DOI: 10.1038/embor.2012.193

  15. Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

    Human Mutation

    Volume 18, Issue 6, December 2001, Pages: 488–498, Carlo Rivolta, Eliot L. Berson and Thaddeus P. Dryja

    Version of Record online : 13 NOV 2001, DOI: 10.1002/humu.1226

  16. You have free access to this content
    Nmnat2 protects cardiomyocytes from hypertrophy via activation of SIRT6

    FEBS Letters

    Volume 586, Issue 6, March 23, 2012, Pages: 866–874, Yi Cai, Shan-Shan Yu, Shao-Rui Chen, Rong-Biao Pi, Si Gao, Hong Li, Jian-Tao Ye and Pei-Qing Liu

    Version of Record online : 20 FEB 2012, DOI: 10.1016/j.febslet.2012.02.014

  17. Overexpression of Wlds or Nmnat2 in mauthner cells by single-cell electroporation delays axon degeneration in live zebrafish

    Journal of Neuroscience Research

    Volume 88, Issue 15, 15 November 2010, Pages: 3319–3327, Yan Feng, Tingting Yan, Jin Zheng, Xinjian Ge, Yu Mu, Yi Zhang, Dongmei Wu, Jiu-lin Du and Qiwei Zhai

    Version of Record online : 20 SEP 2010, DOI: 10.1002/jnr.22498

  18. You have free access to this content
    Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN

    FEBS Letters

    Volume 516, Issue 1-3, April 10, 2002, Pages: 239–244, Erik Werner, Mathias Ziegler, Felicitas Lerner, Manfred Schweiger and Udo Heinemann

    Version of Record online : 15 MAR 2002, DOI: 10.1016/S0014-5793(02)02556-5

    Corrected by:

    Corrigendum: Corrigendum to: Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN (FEBS 25964)

    Vol. 523, Issue 1-3, 254–255, Version of Record online: 26 JUN 2002

  19. Phenotype and polarization of autologous T cells by biomaterial-treated dendritic cells

    Journal of Biomedical Materials Research Part A

    Volume 103, Issue 1, January 2015, Pages: 170–184, Jaehyung Park, Michael H. Gerber and Julia E. Babensee

    Version of Record online : 25 MAR 2014, DOI: 10.1002/jbm.a.35150

  20. N-Methylnicotinamide Is an Endogenous Probe for Evaluation of Drug–Drug Interactions Involving Multidrug and Toxin Extrusions (MATE1 and MATE2-K)

    Clinical Pharmacology & Therapeutics

    Volume 92, Issue 5, November 2012, Pages: 635–641, S Ito, H Kusuhara, Y Kumagai, Y Moriyama, K Inoue, T Kondo, H Nakayama, S Horita, K Tanabe, H Yuasa and Y Sugiyama

    Version of Record online : 10 OCT 2012, DOI: 10.1038/clpt.2012.138