ArticleDisease models & mechanisms2023
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.
Article in Disease models & mechanisms, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 23 citations in OpenAlex.
- Amino Acid Metabolism in Health and Disease.MedComm · 2026Review
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Timing of NAD Deficiency During Organogenesis Dictates Defect Type and Penetrance.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Maternal Circulatory NAD Precursor Levels and the Yolk Sac Determine NAD Deficiency-Driven Congenital Malformation Risk.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Impaired yolk sac NAD metabolism disrupts murine embryogenesis with relevance to human birth defects.eLife · 2025Article
- A zebrafish model of nicotinamide adenine dinucleotide (NADbioRxiv : the preprint server for biology · 2025Article
- Nuclear receptor 4A1 Regulates Mitochondrial Homeostasis in Cardiac Post-Ischemic Injury by Controlling Mitochondrial Fission 1 Protein-Mediated Fragmentation and Parkin-Dependent Mitophagy.International journal of biological sciences · 2025Article
- Exploiting Mitochondria by Triggering a Faulty Unfolded Protein Response Leads to Effective Cardioprotection.International journal of medical sciences · 2025Article
- Investigating the Process of Autoimmune Inner Ear Disease: Unveiling the Intricacies of Pathogenesis and Therapeutic Strategies.International journal of medical sciences · 2025Review
- Spinal Metastasis Pain Surveillance: A Comprehensive Imaging-Based Tool Design for Evaluating Metastatic Burden and Guiding Therapeutic Strategies.International journal of medical sciences · 2025Article
- Glycosphingolipids-Dependent Phospholipid Metabolism Enhances Cancer Initiation and Progression through SMPD1/GLTP/B3GALT4/ST8SIA6 Signaling Axis: A Novel Therapeutic Target.International journal of medical sciences · 2025Article
- Unveiling the role of risk factors and predictive models in acute type-a aortic dissection surgery: OI downregulation and its association with immune disorders.International journal of medical sciences · 2025Article
- Apigenin protects ischemic stroke by regulating intestinal microbiota homeostasis, regulates brain metabolic profile.Frontiers in pharmacology · 2025Article
- Mitochondrial Quality Control Systems in Septic AKI: Molecular Mechanisms and Therapeutic Implications.International journal of medical sciences · 2025Article
- Supplementation with NAD+ and its precursors: A rescue of female reproductive diseases.Biochemistry and biophysics reports · 2024Review
- Targeting mitochondria by lipid-selenium conjugate drug results in malate/fumarate exhaustion and induces mitophagy-mediated necroptosis suppression.International journal of biological sciences · 2024Article
- Mechanism and Application Prospects of NLRC3 Regulating cGAS-STING Pathway in Lung Cancer Immunotherapy.International journal of medical sciences · 2024Review
- Mitochondrial Stress as a Central Player in the Pathogenesis of Hypoxia-Related Myocardial Dysfunction: New Insights.International journal of medical sciences · 2024Review
- Innovative Categorization and Operative Management of Auditory Ossicle Disruption Following Trauma: Therapeutic Efficacy and Interventional Paradigms.International journal of medical sciences · 2024Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Nicotinamide adenine dinucleotide (NAD) is a key metabolite synthesised from vitamin B3 or tryptophan. Disruption of genes encoding NAD synthesis enzymes reduces NAD levels and causes congenital NAD deficiency disorder (CNDD), characterised by multiple congenital malformations. SLC6A19 (encoding B0AT1, a neutral amino acid transporter), represents the main transporter for free tryptophan in the intestine and kidney. Here, we tested whether Slc6a19 heterozygosity in mice limits the tryptophan available for NAD synthesis during pregnancy and causes adverse pregnancy outcomes. Pregnant Slc6a19+/- mice were fed diets depleted of vitamin B3, so that tryptophan was the source of NAD during gestation. This perturbed the NAD metabolome in pregnant Slc6a19+/- females, resulting in reduced NAD levels and increased rates of embryo loss. Surviving embryos were small and exhibited specific combinations of CNDD-associated malformations. Our results show that genes not directly involved in NAD synthesis can affect NAD metabolism and cause CNDD. They also suggest that human female carriers of a SLC6A19 loss-of-function allele might be susceptible to adverse pregnancy outcomes unless sufficient NAD precursor amounts are available during gestation. This article has an associated First Person interview with the first author of the paper.
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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.