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

Nature Genetics

Volumn 44, Issue 7, 2012, Pages 797-802

  Wortmann, Saskia B ^a,b   Vaz, Frédéric M ^c   Gardeitchik, Thatjana ^a,b   Vissers, Lisenka E L M ^b,d   Renkema, G Herma ^a,b   Schuurs Hoeijmakers, Janneke H M ^b   Kulik, Wim ^c   Lammens, Martin ^b   Christin, Christin ^e   Kluijtmans, Leo A J ^b   Rodenburg, Richard J ^a,b   Nijtmans, Leo G J ^a,b   Grünewald, Anne ^f   Klein, Christine ^f   Gerhold, Joachim M ^a,b   Kozicz, Tamas ^g,h   Van Hasselt, Peter M ⁱ   Harakalova, Magdalena ^j   Kloosterman, Wigard ^j   Barić, Ivo ^k   Pronicka, Ewa ^l   Ucar, Sema Kalkan ^m   Naess, Karin ⁿ   Singhal, Kapil K ^o   Krumina, Zita ^p   Gilissen, Christian ^b   Van Bokhoven, Hans ^b,d,g   Veltman, Joris A ^b   Smeitink, Jan A M ^a,b   Lefeber, Dirk J ^b   Spelbrink, Johannes N ^a,b,q   Wevers, Ron A ^b   Morava, Eva ^a,b   De Brouwer, Arjan P M ^b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RUNMC   (Netherlands)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f UNIVERSITY OF LÜBECK   (Germany)

^g RADBOUD UNIVERSITY   (Netherlands)

^h RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^k UNIVERSITY OF ZAGREB   (Croatia)

^l CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^m EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

ⁿ KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^o ALL INDIA INSTITUTE OF MEDICAL SCIENCES   (India)

^p CHILDREN'S CLINICAL UNIVERSITY HOSPITAL   (Latvia)

^q TAMPERE UNIVERSITY HOSPITAL   (Finland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARDIOLIPIN; PHOSPHATIDYLGLYCEROL; PHOSPHOLIPID;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELLULAR DISTRIBUTION; CHOLESTEROL TRANSPORT; CLINICAL ARTICLE; CONTROLLED STUDY; DYSTONIA; ENDOPLASMIC RETICULUM; FIBROBLAST; GENE; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LIPID ANALYSIS; MEGDEL SYNDROME; MITOCHONDRION; MUTATIONAL ANALYSIS; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SERAC1 GENE;

AMINO ACID SEQUENCE; CARBOXYLIC ESTER HYDROLASES; CARDIOLIPINS; CELL LINE, TRANSFORMED; CELL LINE, TUMOR; CHOLESTEROL; DEAFNESS; DYSTONIA; EXOME; FIBROBLASTS; HEK293 CELLS; HELA CELLS; HUMANS; MITOCHONDRIA; MOLECULAR SEQUENCE DATA; MUTATION; OXIDATIVE PHOSPHORYLATION; PHOSPHATIDYLGLYCEROLS; PHOSPHOLIPIDS; SEQUENCE ALIGNMENT;

EID: 84862979366     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2325     Document Type: Article

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