ArticleNature genetics2012
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
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 83 papers.
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Who cites it
83 citing papers in PubMed, 145 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
- Programmed axon degeneration: mechanism, inhibition and therapeutic potential.Nature reviews. Neuroscience · 2026Review
- An ADAR2-mimic base editor for efficient C-to-U RNA editing in vivo.Proceedings of the National Academy of Sciences of the United States of America · 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
- GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.Nature communications · 2024Article
- Identification and characterization ofClinical case reports · 2024Article
- Programmed axon death: a promising target for treating retinal and optic nerve disorders.Eye (London, England) · 2024Review
- Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.International journal of molecular sciences · 2024Article
- Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.BMC ophthalmology · 2024Article
- Pseudocoloboma-like maculopathy with biallelicJournal of medical genetics · 2023Article
- Expression of NMNAT1 in the photoreceptors is sufficient to preventMolecular therapy. Methods & clinical development · 2023Article
- Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.Journal of applied genetics · 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
- The key role of the NAD biosynthetic enzyme nicotinamide mononucleotide adenylyltransferase in regulating cell functions.IUBMB life · 2022Review
- Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina.Human molecular genetics · 2022Article
- NMNAT2 is downregulated in glaucomatous RGCs, and RGC-specific gene therapy rescues neurodegeneration and visual function.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Beyond Genetics: The Role of Metabolism in Photoreceptor Survival, Development and Repair.Frontiers in cell and developmental biology · 2022Review
23 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 13 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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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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.