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

Saskia B Wortmann; Leo A Kluijtmans; Richard J Rodenburg; Leo G Nijtmans; Anne Grünewald; Christine Klein; Joachim M Gerhold; Tamas Kozicz; Peter M van Hasselt; Magdalena Harakalova; Wigard Kloosterman; M Vaz Frédéric; Ewa Pronicka; Johannes Spelbrink; Thatjana Gardeitchik; Lisenka E Vissers; G Herma Renkema; Janneke H Schuurs-Hoeijmakers; Wim Kulik; Martin Lammens; Christin Christin

doi:10.1038/ng.2325

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

Saskia B Wortmann, Leo A Kluijtmans, Richard J Rodenburg, Leo G Nijtmans, Anne Grünewald, Christine Klein, Joachim M Gerhold, Tamas Kozicz, Peter M van Hasselt, Magdalena Harakalova, Wigard Kloosterman, M Vaz Frédéric, Ewa Pronicka, Johannes Spelbrink, Thatjana Gardeitchik, Lisenka E Vissers, G Herma Renkema, Janneke H Schuurs-Hoeijmakers, Wim Kulik, Martin LammensChristin Christin

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

172 Citations (Scopus)

Original language	English
Pages (from-to)	797-802
Journal	Nature Genetics
Volume	44
Issue number	7
DOIs	https://doi.org/10.1038/ng.2325
Publication status	Published - 2012
Publication type	A1 Journal article-refereed

Publication forum classification

Publication forum level 3

Access to Document

10.1038/ng.2325

Cite this

Wortmann, S. B., 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., Vaz Frédéric, M., Pronicka, E., Spelbrink, J., Gardeitchik, T., Vissers, L. E., Renkema, G. H., Schuurs-Hoeijmakers, J. H., Kulik, W., ... Christin, C. (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

@article{bccd3c545fe340eca240251abfc63eb0,

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

author = "Wortmann, {Saskia B} and Kluijtmans, {Leo A} and Rodenburg, {Richard J} and Nijtmans, {Leo G} and Anne Gr{\"u}newald and Christine Klein and Gerhold, {Joachim M} and Tamas Kozicz and {van Hasselt}, {Peter M} and Magdalena Harakalova and Wigard Kloosterman and {Vaz Fr{\'e}d{\'e}ric}, M and Ewa Pronicka and Johannes Spelbrink and Thatjana Gardeitchik and Vissers, {Lisenka E} and Renkema, {G Herma} and Schuurs-Hoeijmakers, {Janneke H} and Wim Kulik and Martin Lammens and Christin Christin",

year = "2012",

doi = "10.1038/ng.2325",

language = "English",

volume = "44",

pages = "797--802",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "7",

}

Wortmann, SB, Kluijtmans, LA, Rodenburg, RJ, Nijtmans, LG, Grünewald, A, Klein, C, Gerhold, JM, Kozicz, T, van Hasselt, PM, Harakalova, M, Kloosterman, W, Vaz Frédéric, M, Pronicka, E, Spelbrink, J, Gardeitchik, T, Vissers, LE, Renkema, GH, Schuurs-Hoeijmakers, JH, Kulik, W, Lammens, M & Christin, C 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, Saskia B

AU - Kluijtmans, Leo A

AU - Rodenburg, Richard J

AU - Nijtmans, Leo G

AU - Grünewald, Anne

AU - Klein, Christine

AU - Gerhold, Joachim M

AU - Kozicz, Tamas

AU - van Hasselt, Peter M

AU - Harakalova, Magdalena

AU - Kloosterman, Wigard

AU - Vaz Frédéric, M

AU - Pronicka, Ewa

AU - Spelbrink, Johannes

AU - Gardeitchik, Thatjana

AU - Vissers, Lisenka E

AU - Renkema, G Herma

AU - Schuurs-Hoeijmakers, Janneke H

AU - Kulik, Wim

AU - Lammens, Martin

AU - Christin, Christin

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 -