Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness-Reference-Cited by-同舟云学术

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

Published:2012-06-10 Issue:7 Volume:44 Page:797-802
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.2325.pdf

Reference24 articles.

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3. Kobayashi, T. et al. Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport. Nat. Cell Biol. 1, 113–118 (1999).

4. Schlame, M. & Ren, M. The role of cardiolipin in the structural organization of mitochondrial membranes. Biochim. Biophys. Acta 1788, 2080–2083 (2009).

5. Schug, Z.T. & Gottlieb, E. Cardiolipin acts as a mitochondrial signalling platform to launch apoptosis. Biochim. Biophys. Acta 1788, 2022–2031 (2009).

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