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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grünewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Barić I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Wortmann SB, et al. Among authors: klein c. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
Bioenergetic consequences of PINK1 mutations in Parkinson disease.
Abramov AY, Gegg M, Grunewald A, Wood NW, Klein C, Schapira AH. Abramov AY, et al. Among authors: klein c. PLoS One. 2011;6(10):e25622. doi: 10.1371/journal.pone.0025622. Epub 2011 Oct 17. PLoS One. 2011. PMID: 22043288 Free PMC article.
Mortalin mutations are not a frequent cause of early-onset Parkinson disease.
Freimann K, Zschiedrich K, Brüggemann N, Grünewald A, Pawlack H, Hagenah J, Lohmann K, Klein C, Westenberger A. Freimann K, et al. Among authors: klein c. Neurobiol Aging. 2013 Nov;34(11):2694.e19-20. doi: 10.1016/j.neurobiolaging.2013.05.021. Epub 2013 Jul 5. Neurobiol Aging. 2013. PMID: 23831374
4,016 results