Article
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.
Nature genetics - 10 Jun 2012
Wortmann Saskia B, Vaz Frédéric M, Gardeitchik Thatjana, Vissers Lisenka E L M, Renkema G Herma, Schuurs-Hoeijmakers Janneke H M, Kulik Wim, Lammens Martin, Christin Christin, Kluijtmans Leo A J, Rodenburg Richard J, Nijtmans Leo G J, Grünewald Anne, Klein Christine, Gerhold Joachim M, Kozicz Tamas, van Hasselt Peter M, Harakalova Magdalena, Kloosterman Wigard, Barić Ivo, Pronicka Ewa, Ucar Sema Kalkan, Naess Karin, Singhal Kapil K, Krumina Zita, Gilissen Christian, van Bokhoven Hans, Veltman Joris A, Smeitink Jan A M, Lefeber Dirk J, Spelbrink Johannes N, Wevers Ron A, Morava Eva, de Brouwer Arjan P M
Abstract excerpt
Using exome sequencing, we identify SERAC1 mutations as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria. We localized SERAC1 at the interface between the mitochondria and the endoplasmic reticulum in the mitochondria-associated membrane fraction that is essential for phospholipid exchange. A...
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