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Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency

✍ Scribed by Saskia Koene; Peter H. G. M. Willems; Peggy Roestenberg; Werner J. H. Koopman; Jan A. M. Smeitink


Book ID
106374528
Publisher
Springer
Year
2010
Tongue
English
Weight
286 KB
Volume
34
Category
Article
ISSN
0141-8955

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Mitochondrial dysfunction is an important cause for neonatal liver disease. Disruption of genes encoding oxidative phosphorylation (OXPHOS) components usually causes embryonic lethality, and thus few disease models are available. We developed a mouse model for GRACILE syndrome, a neonatal mitochondr