Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Authors: Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik, Lisenka E.L.M. Vissers, G. Herma Renkema, Janneke Schuurs-Hoeijmakers, Wim Kulik, Martin Lammens, Christin Christin, Leo A. J. Kluijtmans, Richard J. Rodenburg, Leo Nijtmans, Anne Grünewald, Christine Klein, Joachim M. Gerhold, Tamás Kozicz, Peter M. van Hasselt, Magdaléna Harakaľová, Wigard P. Kloosterman, Ivo Barić, Ewa Pronicka, Sema Kalkan Uçar, K Naess, Kapil Kumar Singhal, Zita Krūmiņa, Christian Gilissen, Hans van Bokhoven, Joris A. Veltman, Jan Smeıtınk, Dirk J. Lefeber, Johannes N. Spelbrink, Ron A. Wevers, Éva Morava, Arjan P.M. de Brouwer - Nature Genetics 2012 cited by 207