@article{bf48b5cd2d914a14b82aaa9ca45eea8c,
title = "The mitochondrial uncoupling protein 2 gene is causal for the spontaneous polycystic liver diseases in mice",
abstract = "Polycystic liver diseases (PCLDs) are autosomal dominant disorders. To date, 3 genes are known to be associated with the disease, SEC63 and PRKCSH and LRP5. Here, we report that mice deficient in the mitochondrial uncoupling protein 2 gene (Ucp2−/−) spontaneously developed PCLDs when they were over 12 months old. Macroscopical observation, blood chemistry as well as histopathological analysis demonstrated the PCLDs found in Ucp2−/− mice were very similar to the findings in human PCLDs. This is the first report describing the gene encoding mitochondrial protein is causative for PCLDs. UCP2 may be a biomarker of the PCLDs in humans.",
keywords = "Mitochondria, Mouse model, Polycystic liver disease (PCLD), Uncoupling protein 2 (UCP2)",
author = "Misa Hirose and Paul Schilf and Sarah Rohde and Yask Gupta and Tiphaine Sancerni and Alves-Guerra, {Marie Clotilde} and Christian Sina and Robert Jaster and Bruno Miroux and Ibrahim, {Saleh M.}",
note = "Funding Information: The authors thank Miriam Freitag, Stephanie Wichmann, Miriam Daumann, Ann-Kathrin Brethack, and Heidi Schlichting for excellent technical support. The authors also thank Daniel Gotthardt for his critical reading of the manuscript. This work was supported by grants from the Bundesministerium f{\"u}r Bildung und Forschung (BMBF, 0315892A and 0315892B ) and the University of L{\"u}beck ( P01-2012 ). Publisher Copyright: {\textcopyright} 2017 Elsevier B.V. and Mitochondria Research Society",
year = "2018",
month = sep,
doi = "10.1016/j.mito.2017.10.011",
language = "British English",
volume = "42",
pages = "50--53",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier B.V.",
}