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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: gerhold jm. Nat Genet. 2012 Jun 10;44(7):797-802. doi: 10.1038/ng.2325. Nat Genet. 2012. PMID: 22683713
The hexameric structure of the human mitochondrial replicative helicase Twinkle.
Fernández-Millán P, Lázaro M, Cansız-Arda Ş, Gerhold JM, Rajala N, Schmitz CA, Silva-Espiña C, Gil D, Bernadó P, Valle M, Spelbrink JN, Solà M. Fernández-Millán P, et al. Among authors: gerhold jm. Nucleic Acids Res. 2015 Apr 30;43(8):4284-95. doi: 10.1093/nar/gkv189. Epub 2015 Mar 30. Nucleic Acids Res. 2015. PMID: 25824949 Free PMC article.
22 results