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Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.
Ke BX, Pepe S, Grubb DR, Komen JC, Laskowski A, Rodda FA, Hardman BM, Pitt JJ, Ryan MT, Lazarou M, Koleff J, Cheung MM, Smolich JJ, Thorburn DR. Ke BX, et al. Among authors: pitt jj. Proc Natl Acad Sci U S A. 2012 Apr 17;109(16):6165-70. doi: 10.1073/pnas.1113987109. Epub 2012 Apr 2. Proc Natl Acad Sci U S A. 2012. PMID: 22474353 Free PMC article.
Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene.
Leong DW, Komen JC, Hewitt CA, Arnaud E, McKenzie M, Phipson B, Bahlo M, Laskowski A, Kinkel SA, Davey GM, Heath WR, Voss AK, Zahedi RP, Pitt JJ, Chrast R, Sickmann A, Ryan MT, Smyth GK, Thorburn DR, Scott HS. Leong DW, et al. Among authors: pitt jj. J Biol Chem. 2012 Jun 8;287(24):20652-63. doi: 10.1074/jbc.M111.327601. Epub 2012 Apr 25. J Biol Chem. 2012. PMID: 22535952 Free PMC article.
Mouse models for methylmalonic aciduria.
Peters HL, Pitt JJ, Wood LR, Hamilton NJ, Sarsero JP, Buck NE. Peters HL, et al. Among authors: pitt jj. PLoS One. 2012;7(7):e40609. doi: 10.1371/journal.pone.0040609. Epub 2012 Jul 9. PLoS One. 2012. PMID: 22792386 Free PMC article.
122 results