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  1. No Access

    Article

    Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

    Leukodystrophies are a heterogeneous group of severe genetic neurodegenerative disorders. A multiple mitochondrial dysfunctions syndrome was found in an infant presenting with a progressive leukoencephalopathy...

    François-Guillaume Debray, Claudia Stümpfig… in Journal of Inherited Metabolic Disease (2015)

  2. No Access

    Article

    Characterization of CoQ10 biosynthesis in fibroblasts of patients with primary and secondary CoQ10 deficiency

    Primary coenzyme Q10 (CoQ10) deficiencies are associated with mutations in genes encoding enzymes important for its biosynthesis and patients are responsive to CoQ10 supplementation. Early treatment allows better...

    Nuria Buján, Angela Arias, Raquel Montero… in Journal of Inherited Metabolic Disease (2014)

  3. No Access

    Article

    Complex III staining in blue native polyacrylamide gels

    For more than a decade now blue native polyacrylamide gel electrophoresis (BN-PAGE) has been used for the study of the oxidative phosphorylation (OXPHOS) complexes. Catalytic activities of complexes I, II, IV ...

    Joél Smet, Boel De Paepe, Sara Seneca… in Journal of Inherited Metabolic Disease (2011)

  4. Article

    Open Access

    Mitochondrial mosaics in the liver of 3 infants with mtDNA defects

    In muscle cytochrome oxidase (COX) negative fibers (mitochondrial mosaics) have often been visualized.

    Frank Roels, Patrick Verloo, François Eyskens, Baudouin François… in BMC Clinical Pathology (2009)

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