Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis.

Majd, Homa; King, Martin S; Smith, Anthony C; Kunji, Edmund R S

Majd, Homa; King, Martin S; Smith, Anthony C; Kunji, Edmund R S.

Affiliation

Majd H; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
King MS; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
Smith AC; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK.
Kunji ERS; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust/MRC Building, Cambridge Biomedical Campus, Hills Road, Cambridge CB2 0XY, UK. Electronic address: ek@mrc-mbu.cam.ac.uk.

Biochim Biophys Acta Bioenerg ; 1859(1): 1-7, 2018 Jan.

Article in En | MEDLINE | ID: mdl-29031613

Subject(s)

Anion Transport Proteins; Citric Acid/metabolism; Computer Simulation; Dolichols; Mitochondrial Proteins; Models, Biological; Mutation, Missense; Sterols; Ubiquinone; Anion Transport Proteins/chemistry; Anion Transport Proteins/genetics; Anion Transport Proteins/metabolism; Biological Transport, Active/genetics; Brain Diseases, Metabolic, Inborn/enzymology; Brain Diseases, Metabolic, Inborn/genetics; Catalytic Domain; Dolichols/biosynthesis; Dolichols/chemistry; Dolichols/genetics; Humans; Mitochondrial Proteins/chemistry; Mitochondrial Proteins/genetics; Mitochondrial Proteins/metabolism; Organic Anion Transporters; Sterols/biosynthesis; Sterols/chemistry; Sterols/metabolism; Ubiquinone/biosynthesis; Ubiquinone/chemistry; Ubiquinone/genetics

Key words

Citrate metabolism; Mitochondrial carriers; Mitochondrial disease; Mitochondrial tricarboxylate carrier; Structure-function relationships; Transport

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Full text: 1 Database: MEDLINE Main subject: Sterols / Computer Simulation / Ubiquinone / Citric Acid / Mutation, Missense / Anion Transport Proteins / Mitochondrial Proteins / Dolichols / Models, Biological Type of study: Prognostic_studies Limits: Humans Language: En Journal: Biochim Biophys Acta Bioenerg Year: 2018 Type: Article Affiliation country: United kingdom

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