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

S.B. Wortmann; F.M. Vaz; T. Gardeitchik; L.E. Vissers; G.H. Renkema; J.H. Schuurs-Hoeijmakers; W. Kulik; M. Lammens; C. Christin; L.A. Kluijtmans; R.J. Rodenburg; L.G. Nijtmans; A. Grünewald; C. Klein; J.M. Gerhold; T. Kozicz; P.M. van Hasselt; M. Harakalova; W.P. Kloosterman; I. Baric; E. Pronicka; S.K. Ucar; K. Naess; K.K. Singhal; Z. Krumina; C. Gilissen; H. van Bokhoven; J.A. Veltman; J.A.M. Smeitink; D.J. Lefeber; J.N. Spelbrink; R.A. Wevers; E. Morava; A.P.M. de Brouwer

doi:10.1038/ng.2325

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

Translated title of the contribution: Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

S.B. Wortmann, F.M. Vaz, T. Gardeitchik, L.E. Vissers, G.H. Renkema, J.H. Schuurs-Hoeijmakers, W. Kulik, M. Lammens, C. Christin, L.A. Kluijtmans, R.J. Rodenburg, L.G. Nijtmans, A. Grünewald, C. Klein, J.M. Gerhold, T. Kozicz, P.M. van Hasselt, M. Harakalova, W.P. Kloosterman, I. BaricE. Pronicka, S.K. Ucar, K. Naess, K.K. Singhal, Z. Krumina, C. Gilissen, H. van Bokhoven, J.A. Veltman, J.A.M. Smeitink, D.J. Lefeber, J.N. Spelbrink, R.A. Wevers, E. Morava, A.P.M. de Brouwer

Research output: Contribution to journal › Article › Academic › peer-review

Translated title of the contribution	Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
Original language	Undefined/Unknown
Pages (from-to)	797-802
Number of pages	6
Journal	Nature Genetics
Volume	44
Issue number	7
DOIs	https://doi.org/10.1038/ng.2325
Publication status	Published - 2012

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10.1038/ng.2325

http://www.ncbi.nlm.nih.gov/pubmed?term=22683713

Cite this

Wortmann, S. B., Vaz, F. M., Gardeitchik, T., Vissers, L. E., Renkema, G. H., Schuurs-Hoeijmakers, J. H., Kulik, W., Lammens, M., Christin, C., Kluijtmans, L. A., Rodenburg, R. J., Nijtmans, L. G., Grünewald, A., Klein, C., Gerhold, J. M., Kozicz, T., van Hasselt, P. M., Harakalova, M., Kloosterman, W. P., ... de Brouwer, A. P. M. (2012). Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nature Genetics, 44(7), 797-802. https://doi.org/10.1038/ng.2325

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

author = "S.B. Wortmann and F.M. Vaz and T. Gardeitchik and L.E. Vissers and G.H. Renkema and J.H. Schuurs-Hoeijmakers and W. Kulik and M. Lammens and C. Christin and L.A. Kluijtmans and R.J. Rodenburg and L.G. Nijtmans and A. Gr{\"u}newald and C. Klein and J.M. Gerhold and T. Kozicz and \{van Hasselt\}, P.M. and M. Harakalova and W.P. Kloosterman and I. Baric and E. Pronicka and S.K. Ucar and K. Naess and K.K. Singhal and Z. Krumina and C. Gilissen and \{van Bokhoven\}, H. and J.A. Veltman and J.A.M. Smeitink and D.J. Lefeber and J.N. Spelbrink and R.A. Wevers and E. Morava and \{de Brouwer\}, A.P.M.",

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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, WP, Baric, I, Pronicka, E, Ucar, SK, Naess, K, Singhal, KK, Krumina, Z, Gilissen, C, van Bokhoven, H, Veltman, JA, Smeitink, JAM, Lefeber, DJ, Spelbrink, JN, Wevers, RA, Morava, E & de Brouwer, APM 2012, 'Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness', Nature Genetics, vol. 44, no. 7, pp. 797-802. https://doi.org/10.1038/ng.2325

TY - JOUR

T1 - Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

AU - Wortmann, S.B.

AU - Vaz, F.M.

AU - Gardeitchik, T.

AU - Vissers, L.E.

AU - Renkema, G.H.

AU - Schuurs-Hoeijmakers, J.H.

AU - Kulik, W.

AU - Lammens, M.

AU - Christin, C.

AU - Kluijtmans, L.A.

AU - Rodenburg, R.J.

AU - Nijtmans, L.G.

AU - Grünewald, A.

AU - Klein, C.

AU - Gerhold, J.M.

AU - Kozicz, T.

AU - van Hasselt, P.M.

AU - Harakalova, M.

AU - Kloosterman, W.P.

AU - Baric, I.

AU - Pronicka, E.

AU - Ucar, S.K.

AU - Naess, K.

AU - Singhal, K.K.

AU - Krumina, Z.

AU - Gilissen, C.

AU - van Bokhoven, H.

AU - Veltman, J.A.

AU - Smeitink, J.A.M.

AU - Lefeber, D.J.

AU - Spelbrink, J.N.

AU - Wevers, R.A.

AU - Morava, E.

AU - de Brouwer, A.P.M.

PY - 2012

Y1 - 2012

U2 - 10.1038/ng.2325

DO - 10.1038/ng.2325

M3 - Article

SN - 1061-4036

VL - 44

SP - 797

EP - 802

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -