Identification of a SIRT1 mutation in a family with type 1 diabetes.

doi:10.1016/j.cmet.2013.02.001

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Article

Identification of a SIRT1 mutation in a family with type 1 diabetes.

Cell metabolism - 5 Mar 2013

Biason-Lauber Anna, Böni-Schnetzler Marianne, Hubbard Basil P, Bouzakri Karim, Brunner Andrea, Cavelti-Weder Claudia, Keller Cornelia, Meyer-Böni Monika, Meier Daniel T, Brorsson Caroline, Timper Katharina, Leibowitz Gil, Patrignani Andrea, Bruggmann Remy, Boily Gino, Zulewski Henryk, Geier Andreas, Cermak Jennifer M, Elliott Peter, Ellis James L, Westphal Christoph, Knobel Urs, Eloranta Jyrki J, Kerr-Conte Julie, Pattou François, Konrad Daniel, Matter Christian M, Fontana Adriano, Rogler Gerhard, Schlapbach Ralph, Regairaz Camille, Carballido José M, Glaser Benjamin, McBurney Michael W, Pociot Flemming, Sinclair David A, Donath Marc Y

Abstract excerpt

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...

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Identifiers

PMID: 23473037
DOI: 10.1016/j.cmet.2013.02.001
PMCID: PMC3746172

Genes

SIRT1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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