Rodenburg RJ

Title : Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

Author(s) : Wortmann SB , Vaz FM , Gardeitchik T , Vissers LE , Renkema GH , Schuurs-Hoeijmakers JH , Kulik W , Lammens M , Christin C , Kluijtmans LA , Rodenburg RJ , Nijtmans LG , Grunewald A , Klein C , Gerhold JM , Kozicz T , van Hasselt PM , Harakalova M , Kloosterman W , Baric I , Pronicka E , Ucar SK , Naess K , Singhal KK , Krumina Z , Gilissen C , van Bokhoven H , Veltman JA , Smeitink JA , Lefeber DJ , Spelbrink JN , Wevers RA , Morava E , de Brouwer AP

Ref : Nat Genet , 44 :797 , 2012

Abstract :

PubMedSearch : Wortmann_2012_Nat.Genet_44_797

PubMedID: 22683713

Gene_locus related to this paper: human-SERAC1

Title : Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47

Author(s) : Wortmann S , Rodenburg RJ , Huizing M , Loupatty FJ , de Koning T , Kluijtmans LA , Engelke U , Wevers R , Smeitink JA , Morava E

Ref : Mol Genet Metab , 88 :47 , 2006

Abstract :

PubMedSearch : Wortmann_2006_Mol.Genet.Metab_88_47

PubMedID: 16527507

Gene_locus related to this paper: human-SERAC1

Rodenburg RJ

References (2)

1. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness - Wortmann_2012_Nat.Genet_44_797

2. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation - Wortmann_2006_Mol.Genet.Metab_88_47