ArticleCell metabolism2013
Identification of a SIRT1 mutation in a family with type 1 diabetes.
Article in Cell metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
70 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Established and emerging biomarkers for the prediction of type 1 diabetes: a systematic review.Translational research : the journal of laboratory and clinical medicine · 2014Pooled it
- Elevations in the Fasting Serum Proinsulin-to-C-Peptide Ratio Precede the Onset of Type 1 Diabetes.Diabetes care · 2016Trial
- Defective expression of SIRT1 contributes to sustain inflammatory pathways in the gut.Mucosal immunology · 2014Trial
- Sirtuins in Medicine: Multifaceted Roles in Physiological Processes and Cardiovascular Diseases.Biomolecules · 2026Review
- Linking SIRT1 Variants to Metabolic and Cardiovascular Phenotypes: Insights from Population Genetics and In Silico Structural Analysis.Cell biochemistry and biophysics · 2026Review
- Arzanol: A Review of Chemical Properties and Biological Activities.Plants (Basel, Switzerland) · 2025Review
- The multifaceted role of sirtuins in inflammatory bowel diseases.American journal of physiology. Gastrointestinal and liver physiology · 2025Review
- Mesenchymal stromal cells ameliorate mitochondrial dysfunction in α cells and hyperglucagonemia in type 2 diabetes via SIRT1/FoxO3a signaling.Stem cells translational medicine · 2024Article
- Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice.iScience · 2024Article
- Effect of SIRT1 gene single-nucleotide polymorphisms on susceptibility to type 1 diabetes in a Han Chinese population.Journal of endocrinological investigation · 2024Article
- Metabolic mechanisms orchestrated by Sirtuin family to modulate inflammatory responses.Frontiers in immunology · 2024Review
- NADAntioxidants (Basel, Switzerland) · 2023Review
- β Cell and Autophagy: What Do We Know?Biomolecules · 2023Review
- Genetic Variants ofInternational journal of endocrinology · 2023Article
- Sirtuin family in autoimmune diseases.Frontiers in immunology · 2023Review
- Case Report: A novel mutation inFrontiers in endocrinology · 2023Article
- Novel Role of the SIRT1 in Endocrine and Metabolic Diseases.International journal of biological sciences · 2023Review
- Insights on attenuating autophagy cellular and molecular pathways versus methotrexate-induced toxicity via liposomal turmeric therapy.Journal, genetic engineering & biotechnology · 2022Article
- A natural genetic variation screen identifies insulin signaling, neuronal communication, and innate immunity as modifiers of hyperglycemia in the absence of Sirt1.G3 (Bethesda, Md.) · 2022Article
- Activation of SIRT-1 Signalling in the Prevention of Bipolar Disorder and Related Neurocomplications: Target Activators and Influences on Neurological Dysfunctions.Neurotoxicity research · 2022Review
10 more citing papers are in PubMed but not listed here.
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Authors and funding
37 authors at 13 institutions in 6 countries.
Funding
Abstract
Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative colitis. Initially, a 26-year-old man was diagnosed with the typical features of type 1 diabetes, including lean body mass, autoantibodies, T cell reactivity to β cell antigens, and a rapid dependence on insulin. Direct and exome sequencing identified the presence of a T-to-C exchange in exon 1 of SIRT1, corresponding to a leucine-to-proline mutation at residue 107. Expression of SIRT1-L107P in insulin-producing cells resulted in overproduction of nitric oxide, cytokines, and chemokines. These observations identify a role for SIRT1 in human autoimmunity and unveil a monogenic form of type 1 diabetes.
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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.