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

Saskia Wortmann (First author), 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

    Research output: Contribution to journalOriginal Articlepeer-review

    158 Citations (Web of Science)
    Original languageEnglish
    Pages (from-to)797-802
    JournalNATURE GENETICS
    Volume44
    Issue number7
    DOIs
    Publication statusPublished - 2012

    Keywords

    • 3-METHYLGLUTACONIC ACIDURIA
    • BARTH SYNDROME
    • BIOSYNTHESIS
    • CARDIOLIPIN
    • ASSOCIATION
    • INTERFACE
    • FRACTION

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