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

Saskia B. Wortmann, Frédéric M. Vaz, Thatjana Gardeitchik, Lisenka E L M Vissers, G. Herma Renkema, Janneke H M Schuurs-Hoeijmakers, Wim Kulik, Martin Lammens, Christin Christin, Leo A J Kluijtmans, Richard J. Rodenburg, Leo G J Nijtmans, Anne Grünewald, Christine Klein, Joachim M. Gerhold, Tamas Kozicz, Peter M. Van Hasselt, Magdalena Harakalova, Wigard Kloosterman, Ivo BarićEwa Pronicka, Sema Kalkan Ucar, Karin Naess, Kapil K. Singhal, Zita Krumina, Christian Gilissen, Hans Van Bokhoven, Joris A. Veltman, Jan A M Smeitink, Dirk J. Lefeber, Johannes N. Spelbrink, Ron A. Wevers*, Eva Morava, Arjan P M De Brouwer

*Corresponding author for this work
82 Citations (Scopus)

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Medicine & Life Sciences