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Comprehensive overview of disease models for Wolfram syndrome: toward effective treatments

  • Published:2024-02-13 Issue:1 Volume:35 Page:1-12
  • ISSN:0938-8990
  • Container-title:Mammalian Genome
  • language:en
  • Short-container-title:Mamm Genome

Author:

Morikawa Shuntaro,Tanabe Katsuya,Kaneko Naoya,Hishimura Nozomi,Nakamura Akie

Funder

The Japanese Society for Pediatric Endocrinology Future Development Grant

Grants-in-Aid from the Ministry of Education, Culture, Sports, Science and Technology, Japan

Publisher

Springer Science and Business Media LLC

Reference100 articles.

1. Abreu D, Asada R, Revilla JMP, Lavagnino Z, Kries K, Piston DW, Urano F (2020) Wolfram syndrome 1 gene regulates pathways maintaining beta-cell health and survival. Lab Invest 100:849–862. https://doi.org/10.1038/s41374-020-0408-5

2. Abreu D, Stone SI, Pearson TS, Bucelli RC, Simpson AN, Hurst S, Brown CM, Kries K, Onwumere C, Gu H, Hoekel J, Tychsen L, Van Stavern GP, White NH, Marshall BA, Hershey T, Urano F (2021) A phase Ib/IIa clinical trial of dantrolene sodium in patients with Wolfram syndrome. JCI Insight 6(15):e145188. https://doi.org/10.1172/jci.insight.145188

3. Akiyama M, Hatanaka M, Ohta Y, Ueda K, Yanai A, Uehara Y, Tanabe K, Tsuru M, Miyazaki M, Saeki S, Saito T, Shinoda K, Oka Y, Tanizawa Y (2009) Increased insulin demand promotes while pioglitazone prevents pancreatic beta cell apoptosis in Wfs1 knockout mice. Diabetologia 52:653–663. https://doi.org/10.1007/s00125-009-1270-6

4. Angebault C, Fauconnier J, Patergnani S, Rieusset J, Danese A, Affortit CA, Jagodzinska J, Mégy C, Quiles M, Cazevieille C, Korchagina J, Bonnet-Wersinger D, Milea D, Hamel C, Pinton P, Thiry M, Lacampagne A, Delprat B, Delettre C (2018) ER-mitochondria cross-talk is regulated by the Ca(2+) sensor NCS1 and is impaired in Wolfram syndrome. Sci Signal 11:eaaq1380. https://doi.org/10.1126/scisignal.aaq1380

5. Bansal V, Boehm BO, Darvasi A (2018) Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals. Diabetologia 61:2180–2188. https://doi.org/10.1007/s00125-018-4690-3

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