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Article

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

Nature genetics - 1 Sept 2012

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

Abstract excerpt

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 m...

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Source

Identifiers

PMID: 22842229
DOI: 10.1038/ng.2357

Genes

NMNAT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22842229-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.PMID 22842229Read ↗

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.Semantic proximity Read ↗

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NMNAT1 mutations cause Leber congenital amaurosis.Semantic proximity Read ↗

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SARM1 depletion rescues NMNAT1 dependent photoreceptor cell death and retinal degenerationSemantic proximity Read ↗

A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.Semantic proximity Read ↗

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