Tuesday, April 16, 2013

Mitochondrial disorders. New fly disease model. Recent report.

Studies in Drosophila contribute to characterization of a human gene newly implicated in disease. Table 2 of the paper presents a comparison of the human disease and fly knockdown phenotypes.

van Bon BW, Oortveld MA, Nijtmans LG, Fenckova M, Nijhof B, Besseling J, Vos M, Kramer JM, de Leeuw N, Castells-Nobau A, Asztalos L, Viragh E, Ruiter M, Hofmann F, Eshuis L, Collavin L, Huynen MA, Asztalos Z, Verstreken P, Rodenburg RJ, Smeitink JA, de Vries BB, Schenck A. CEP89 is required for mitochondrial metabolism and neuronal function in man and fly. Hum Mol Genet. 2013 Apr 10. PMID: 23575228.

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