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

Tutkimustuotos: Artikkeli › Scientific › vertaisarvioitu

119 Sitaatiot (Scopus)

Alkuperäiskieli	Englanti
Sivut	797-802
Julkaisu	Nature Genetics
Vuosikerta	44
Numero	7
DOI - pysyväislinkit	https://doi.org/10.1038/ng.2325
Tila	Julkaistu - 2012
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä

Julkaisufoorumi-taso

Jufo-taso 3

Pääsy asiakirjaan

10.1038/ng.2325

Siteeraa tätä

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, Vuosikerta 44, Nro 7, Sivut 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 -