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

Saskia Wortmann; 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 Barić; Ewa 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

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 Wortmann (Erstautor/-in), 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

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

158 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	797-802
Fachzeitschrift	NATURE GENETICS
Jahrgang	44
Ausgabenummer	7
DOIs	https://doi.org/10.1038/ng.2325
Publikationsstatus	Veröffentlicht - 2012

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10.1038/ng.2325

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Wortmann, S., Vaz, F. M., Gardeitchik, T., Vissers, L. E. L. M., Renkema, G. H., Schuurs-Hoeijmakers, J. H. M., Kulik, W., Lammens, M., Christin, C., Kluijtmans, L. A. J., Rodenburg, R. J., Nijtmans, L. G. J., Grünewald, A., Klein, C., Gerhold, J. M., Kozicz, T., van Hasselt, P. M., Harakalova, M., Kloosterman, W., ... 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

Wortmann, Saskia ; Vaz, Frédéric M ; Gardeitchik, Thatjana et al. / Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. in: NATURE GENETICS 2012 ; Jahrgang 44, Nr. 7. S. 797-802.

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

keywords = "3-METHYLGLUTACONIC ACIDURIA, BARTH SYNDROME, BIOSYNTHESIS, CARDIOLIPIN, ASSOCIATION, INTERFACE, FRACTION",

author = "Saskia Wortmann and Vaz, {Fr{\'e}d{\'e}ric M} and Thatjana Gardeitchik and Vissers, {Lisenka E L M} and Renkema, {G Herma} and Schuurs-Hoeijmakers, {Janneke H M} and Wim Kulik and Martin Lammens and Christin Christin and Kluijtmans, {Leo A J} and Rodenburg, {Richard J} and Nijtmans, {Leo G J} 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 Ivo Bari{\'c} and Ewa Pronicka and Ucar, {Sema Kalkan} and Karin Naess and Singhal, {Kapil K} and Zita Krumina and Christian Gilissen and {van Bokhoven}, Hans and Veltman, {Joris A} and Smeitink, {Jan A M} and Lefeber, {Dirk J} and Spelbrink, {Johannes N} and Wevers, {Ron A} and Eva Morava and {de Brouwer}, {Arjan P M}",

year = "2012",

doi = "10.1038/ng.2325",

language = "English",

volume = "44",

pages = "797--802",

journal = "NATURE GENETICS ",

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Wortmann, S, Vaz, FM, Gardeitchik, T, Vissers, LELM, Renkema, GH, Schuurs-Hoeijmakers, JHM, Kulik, W, Lammens, M, Christin, C, Kluijtmans, LAJ, Rodenburg, RJ, Nijtmans, LGJ, Grünewald, A, Klein, C, Gerhold, JM, Kozicz, T, van Hasselt, PM, Harakalova, M, Kloosterman, W, Barić, 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 , Jg. 44, Nr. 7, S. 797-802. https://doi.org/10.1038/ng.2325

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. / Wortmann, Saskia (Erstautor/-in); Vaz, Frédéric M; Gardeitchik, Thatjana et al.
in: NATURE GENETICS , Jahrgang 44, Nr. 7, 2012, S. 797-802.

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

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

AU - Vaz, Frédéric M

AU - Gardeitchik, Thatjana

AU - Vissers, Lisenka E L M

AU - Renkema, G Herma

AU - Schuurs-Hoeijmakers, Janneke H M

AU - Kulik, Wim

AU - Lammens, Martin

AU - Christin, Christin

AU - Kluijtmans, Leo A J

AU - Rodenburg, Richard J

AU - Nijtmans, Leo G J

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 - Barić, Ivo

AU - Pronicka, Ewa

AU - Ucar, Sema Kalkan

AU - Naess, Karin

AU - Singhal, Kapil K

AU - Krumina, Zita

AU - Gilissen, Christian

AU - van Bokhoven, Hans

AU - Veltman, Joris A

AU - Smeitink, Jan A M

AU - Lefeber, Dirk J

AU - Spelbrink, Johannes N

AU - Wevers, Ron A

AU - Morava, Eva

AU - de Brouwer, Arjan P M

PY - 2012

Y1 - 2012

KW - 3-METHYLGLUTACONIC ACIDURIA

KW - BARTH SYNDROME

KW - BIOSYNTHESIS

KW - CARDIOLIPIN

KW - ASSOCIATION

KW - INTERFACE

KW - FRACTION

U2 - 10.1038/ng.2325

DO - 10.1038/ng.2325

M3 - Original Article

C2 - 22683713

SN - 1061-4036

VL - 44

SP - 797

EP - 802

JO - NATURE GENETICS

JF - NATURE GENETICS

IS - 7

ER -

Wortmann S, Vaz FM, Gardeitchik T, Vissers LELM, Renkema GH, Schuurs-Hoeijmakers JHM et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. NATURE GENETICS . 2012;44(7):797-802. doi: 10.1038/ng.2325