ArticleNature genetics2012
NMNAT1 mutations cause Leber congenital amaurosis.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers.
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Who cites it
114 citing papers in PubMed, 199 citations in OpenAlex.
- Nicotinamide Mononucleotide Adenylyltransferase 1 and NADMetabolites · 2026Review
- Oxidative DNA damage drives apoptotic photoreceptor loss in NMNAT1-associated inherited retinal degeneration: a therapeutic opportunity.Cell death & disease · 2026Article
- Novel compound heterozygous variants in NMNAT1 associated with leber congenital amaurosis: clinical and mutational profiles.Molecular biology reports · 2026Article
- Programmed axon degeneration: mechanism, inhibition and therapeutic potential.Nature reviews. Neuroscience · 2026Review
- Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay.Research square · 2025Article
- Retinal ischemic diseases and promising therapeutic molecular targets.Histology and histopathology · 2025Review
- Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases.International journal of molecular sciences · 2024Article
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Identification and characterization ofClinical case reports · 2024Article
- Programmed axon death: a promising target for treating retinal and optic nerve disorders.Eye (London, England) · 2024Review
- Inhibitors of NADInternational journal of molecular sciences · 2024Review
- NADMolecular biology reports · 2023Review
- Expression of NMNAT1 in the photoreceptors is sufficient to preventMolecular therapy. Methods & clinical development · 2023Article
- Article
- Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Journal of applied genetics · 2023Article
- Loss-of-function approach using mouse retinal explants showed pivotal roles of Nmnat2 in early and middle stages of retinal development.Molecular biology of the cell · 2023Article
- Role of Nuclear NADAdvances in experimental medicine and biology · 2023Review
- Clinical features and genetic spectrum of NMNAT1-associated retinal degeneration.Eye (London, England) · 2022Article
- Article
- Axon Biology in ALS: Mechanisms of Axon Degeneration and Prospects for Therapy.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
54 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
29 authors at 12 institutions in 5 countries.
Funding
Abstract
Leber congenital amaurosis (LCA) is an infantile-onset form of inherited retinal degeneration characterized by severe vision loss(1,2). Two-thirds of LCA cases are caused by mutations in 17 known disease-associated genes(3) (Retinal Information Network (RetNet)). Using exome sequencing we identified a homozygous missense mutation (c.25G>A, p.Val9Met) in NMNAT1 that is likely to be disease causing in two siblings of a consanguineous Pakistani kindred affected by LCA. This mutation segregated with disease in the kindred, including in three other children with LCA. NMNAT1 resides in the previously identified LCA9 locus and encodes the nuclear isoform of nicotinamide mononucleotide adenylyltransferase, a rate-limiting enzyme in nicotinamide adenine dinucleotide (NAD(+)) biosynthesis(4,5). Functional studies showed that the p.Val9Met alteration decreased NMNAT1 enzyme activity. Sequencing NMNAT1 in 284 unrelated families with LCA identified 14 rare mutations in 13 additional affected individuals. These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.