@article{b3ff9b21d68744679c861d99e33cb54b,
title = "Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import",
abstract = "The Tim23 protein is the key component of the mitochondrial import machinery. It locates to the inner mitochondrial membrane and its own import is dependent on the DDP1/TIM13 complex. Mutations in human DDP1 cause the Mohr-Tranebjaerg syndrome (MTS/DFN-1; OMIM #304700), which is one of the two known human diseases of the mitochondrial protein import machinery. We created a Tim23 knockout mouse from a gene trap embryonic stem cell clone. Homozygous Tim23 mice were not viable. Heterozygous F1 mutants showed a 50% reduction of Tim23 protein in Western blot, a neurological phenotype and a markedly reduced life span. Haploinsufficiency of the Tim23 mutation underlines the critical role of the mitochondrial import machinery for maintaining mitochondrial function.",
keywords = "DDP1, Mitochondrial import machinery, Tim23 knockout mouse",
author = "Uwe Ahting and Thomas Floss and Nikolas Uez and Ilka Schneider-Lohmar and Lore Becker and Eva Kling and Arcangela Iuso and Andreas Bender and {de Angelis}, {Martin Hrab{\'e}} and Val{\'e}rie Gailus-Durner and Helmut Fuchs and Thomas Meitinger and Wolfgang Wurst and Holger Prokisch and Thomas Klopstock",
note = "Funding Information: We are grateful to Reinhard Seeliger and the German Mouse Clinic technician team for expert technical help. This work was supported by NGFN grants from the Bundesministerium f{\"u}r Bildung und Forschung (01GR0411, 01GR0430 and 01GR0434.), the EU grant EUMODIC (LSHG-2006-037188, German Mouse Clinic) and by the Impulse & Networking Fund of the Helmholtz Association in the framework of the Helmholtz Alliance for Mental Health in an Ageing Society, HA-215.",
year = "2009",
month = may,
doi = "10.1016/j.bbabio.2008.12.001",
language = "English",
volume = "1787",
pages = "371--376",
journal = "BBA - Bioenergetics",
issn = "0005-2728",
publisher = "Elsevier B.V.",
number = "5",
}