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Page 1
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.
Gispert S, Parganlija D, Klinkenberg M, Dröse S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Büchel F, Adler T, Hrabé de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G. Gispert S, et al. Among authors: auburger g. Hum Mol Genet. 2013 Dec 15;22(24):4871-87. doi: 10.1093/hmg/ddt338. Epub 2013 Jul 12. Hum Mol Genet. 2013. PMID: 23851121 Free PMC article.
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. Among authors: auburger g. J Neurosci. 2007 Nov 7;27(45):12413-8. doi: 10.1523/JNEUROSCI.0719-07.2007. J Neurosci. 2007. PMID: 17989306 Free PMC article.
Insulin receptor and lipid metabolism pathology in ataxin-2 knock-out mice.
Lastres-Becker I, Brodesser S, Lütjohann D, Azizov M, Buchmann J, Hintermann E, Sandhoff K, Schürmann A, Nowock J, Auburger G. Lastres-Becker I, et al. Among authors: auburger g. Hum Mol Genet. 2008 May 15;17(10):1465-81. doi: 10.1093/hmg/ddn035. Epub 2008 Feb 4. Hum Mol Genet. 2008. PMID: 18250099
231 results