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Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin.
Exner N, Treske B, Paquet D, Holmström K, Schiesling C, Gispert S, Carballo-Carbajal I, Berg D, Hoepken HH, Gasser T, Krüger R, Winklhofer KF, Vogel F, Reichert AS, Auburger G, Kahle PJ, Schmid B, Haass C. Exner N, et al. J Neurosci. 2007 Nov 7;27(45):12413-8. doi: 10.1523/JNEUROSCI.0719-07.2007. J Neurosci. 2007. PMID: 17989306 Free PMC article.
Loss of parkin or PINK1 function increases Drp1-dependent mitochondrial fragmentation.
Lutz AK, Exner N, Fett ME, Schlehe JS, Kloos K, Lämmermann K, Brunner B, Kurz-Drexler A, Vogel F, Reichert AS, Bouman L, Vogt-Weisenhorn D, Wurst W, Tatzelt J, Haass C, Winklhofer KF. Lutz AK, et al. Among authors: exner n. J Biol Chem. 2009 Aug 21;284(34):22938-51. doi: 10.1074/jbc.M109.035774. Epub 2009 Jun 22. J Biol Chem. 2009. PMID: 19546216 Free PMC article.
TRAP1 rescues PINK1 loss-of-function phenotypes.
Zhang L, Karsten P, Hamm S, Pogson JH, Müller-Rischart AK, Exner N, Haass C, Whitworth AJ, Winklhofer KF, Schulz JB, Voigt A. Zhang L, et al. Among authors: exner n. Hum Mol Genet. 2013 Jul 15;22(14):2829-41. doi: 10.1093/hmg/ddt132. Epub 2013 Mar 21. Hum Mol Genet. 2013. PMID: 23525905 Free PMC article.
15 results