Literature DB >> 22842229

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

Isabelle Perrault1, Sylvain Hanein, Xavier Zanlonghi, Valérie Serre, Michael Nicouleau, Sabine Defoort-Delhemmes, Nathalie Delphin, Lucas Fares-Taie, Sylvie Gerber, Olivia Xerri, Catherine Edelson, Alice Goldenberg, Alice Duncombe, Gylène Le Meur, Christian Hamel, Eduardo Silva, Patrick Nitschke, Patrick Calvas, Arnold Munnich, Olivier Roche, Hélène Dollfus, Josseline Kaplan, Jean-Michel Rozet.   

Abstract

In addition to its activity in nicotinamide adenine dinucleotide (NAD(+)) synthesis, the nuclear nicotinamide mononucleotide adenyltransferase NMNAT1 acts as a chaperone that protects against neuronal activity-induced degeneration. Here we report that compound heterozygous and homozygous NMNAT1 mutations cause severe neonatal neurodegeneration of the central retina and early-onset optic atrophy in 22 unrelated individuals. Their clinical presentation is consistent with Leber congenital amaurosis and suggests that the mutations affect neuroprotection of photoreceptor cells.

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Year:  2012        PMID： 22842229     DOI： 10.1038/ng.2357

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Identification of a novel human nicotinamide mononucleotide adenylyltransferase.

Authors:  Nadia Raffaelli; Leonardo Sorci; Adolfo Amici; Monica Emanuelli; Francesca Mazzola; Giulio Magni
Journal:  Biochem Biophys Res Commun       Date:  2002-10-04       Impact factor: 3.575

2.  Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases.

Authors:  Corinna Lau; Christian Dölle; Toni I Gossmann; Line Agledal; Marc Niere; Mathias Ziegler
Journal:  J Biol Chem       Date:  2010-04-13       Impact factor: 5.157

Review 3.  Wallerian degeneration, wld(s), and nmnat.

Authors:  Michael P Coleman; Marc R Freeman
Journal:  Annu Rev Neurosci       Date:  2010       Impact factor: 12.449

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

Authors:  Laura Conforti; Lucie Janeckova; Diana Wagner; Francesca Mazzola; Lucia Cialabrini; Michele Di Stefano; Giuseppe Orsomando; Giulio Magni; Caterina Bendotti; Neil Smyth; Michael Coleman
Journal:  FEBS J       Date:  2011-06-14       Impact factor: 5.542

5.  Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.

Authors:  Panagiotis I Sergouniotis; Alice E Davidson; Donna S Mackay; Zheng Li; Xu Yang; Vincent Plagnol; Anthony T Moore; Andrew R Webster
Journal:  Am J Hum Genet       Date:  2011-07-15       Impact factor: 11.025

6.  Structure of human nicotinamide/nicotinic acid mononucleotide adenylyltransferase. Basis for the dual substrate specificity and activation of the oncolytic agent tiazofurin.

Authors:  Tianjun Zhou; Oleg Kurnasov; Diana R Tomchick; Derk D Binns; Nick V Grishin; Victor E Marquez; Andrei L Osterman; Hong Zhang
Journal:  J Biol Chem       Date:  2002-01-11       Impact factor: 5.157

7.  Wallerian degeneration of injured axons and synapses is delayed by a Ube4b/Nmnat chimeric gene.

Authors:  T G Mack; M Reiner; B Beirowski; W Mi; M Emanuelli; D Wagner; D Thomson; T Gillingwater; F Court; L Conforti; F S Fernando; A Tarlton; C Andressen; K Addicks; G Magni; R R Ribchester; V H Perry; M P Coleman
Journal:  Nat Neurosci       Date:  2001-12       Impact factor: 24.884

8.  Nicotinamide mononucleotide adenylyl transferase-mediated axonal protection requires enzymatic activity but not increased levels of neuronal nicotinamide adenine dinucleotide.

Authors:  Yo Sasaki; Bhupinder P S Vohra; Frances E Lund; Jeffrey Milbrandt
Journal:  J Neurosci       Date:  2009-04-29       Impact factor: 6.167

9.  Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Authors:  Isabelle Perrault; Nathalie Delphin; Sylvain Hanein; Sylvie Gerber; Jean-Louis Dufier; Olivier Roche; Sabine Defoort-Dhellemmes; Hélène Dollfus; Elisa Fazzi; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet
Journal:  Hum Mutat       Date:  2007-04       Impact factor: 4.878

10.  Wld S requires Nmnat1 enzymatic activity and N16-VCP interactions to suppress Wallerian degeneration.

Authors:  Michelle A Avery; Amy E Sheehan; Kimberly S Kerr; Jing Wang; Marc R Freeman
Journal:  J Cell Biol       Date:  2009-02-23       Impact factor: 10.539
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  67 in total

Review 1.  Location, Location, Location: Compartmentalization of NAD+ Synthesis and Functions in Mammalian Cells.

Authors:  Xiaolu A Cambronne; W Lee Kraus
Journal:  Trends Biochem Sci       Date:  2020-06-25       Impact factor: 13.807

Review 2.  Probing Metabolism in the Intact Retina Using Stable Isotope Tracers.

Authors:  Jianhai Du; Jonathan D Linton; James B Hurley
Journal:  Methods Enzymol       Date:  2015-06-14       Impact factor: 1.600

3.  Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.

Authors:  Marshall Lukacs; Jonathan Gilley; Yi Zhu; Giuseppe Orsomando; Carlo Angeletti; Jiaqi Liu; Xiuna Yang; Joun Park; Robert J Hopkin; Michael P Coleman; R Grace Zhai; Rolf W Stottmann
Journal:  Exp Neurol       Date:  2019-05-25       Impact factor: 5.330

4.  NMNAT1 variants cause cone and cone-rod dystrophy.

Authors:  Benjamin M Nash; Richard Symes; Himanshu Goel; Marcel E Dinger; Bruce Bennetts; John R Grigg; Robyn V Jamieson
Journal:  Eur J Hum Genet       Date:  2017-11-28       Impact factor: 4.246

Review 5.  NMNAT: It's an NAD+ synthase… It's a chaperone… It's a neuroprotector.

Authors:  Jennifer M Brazill; Chong Li; Yi Zhu; R Grace Zhai
Journal:  Curr Opin Genet Dev       Date:  2017-04-23       Impact factor: 5.578

6.  Chaperoning the synapse--NMNAT protects Bruchpilot from crashing.

Authors:  Elsa Lauwers; Patrik Verstreken
Journal:  EMBO Rep       Date:  2012-11-30       Impact factor: 8.807

7.  Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Authors:  John Hoon Rim; Seung-Tae Lee; Heon Yung Gee; Byung Joo Lee; Jong Rak Choi; Hye Won Park; Sueng-Han Han; Jinu Han
Journal:  JAMA Ophthalmol       Date:  2017-12-01       Impact factor: 7.389

Review 8.  Juvenile Macular Degenerations.

Authors:  Pablo Altschwager; Lucia Ambrosio; Emily A Swanson; Anne Moskowitz; Anne B Fulton
Journal:  Semin Pediatr Neurol       Date:  2017-05-23       Impact factor: 1.636

Review 9.  Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.

Authors:  A Hedergott; A E Volk; P Herkenrath; H Thiele; J Fricke; J Altmüller; P Nürnberg; C Kubisch; A Neugebauer
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2015-10-13       Impact factor: 3.117

10.  Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

Authors:  Lucas Bonafede; Can H Ficicioglu; Leona Serrano; Grace Han; Jessica I W Morgan; Monte D Mills; Brian J Forbes; Stefanie L Davidson; Gil Binenbaum; Paige B Kaplan; Charles W Nichols; Patrick Verloo; Bart P Leroy; Albert M Maguire; Tomas S Aleman
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-12       Impact factor: 4.799
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