Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB

Cell Metabolism

Volumn 23, Issue 2, 2016, Pages 292-302

  Maio, Nunziata ^a   Ghezzi, Daniele ^b   Verrigni, Daniela ^c   Rizza, Teresa ^c   Bertini, Enrico ^c   Martinelli, Diego ^c   Zeviani, Massimo ^d   Singh, Anamika ^a   Carrozzo, Rosalba ^c   Rouault, Tracey A ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b Unit of Experimental Neurophysiology and Epileptology   (Italy)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; AROMATIC AMINO ACID; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR 2ALPHA; IRON SULFUR PROTEIN; RIBOFLAVIN; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE B; SUCCINATE DEHYDROGENASE COMPLEX ASSEMBLY FACTOR 1; TRIPEPTIDE; UNCLASSIFIED DRUG; CHAPERONE; HSCB PROTEIN, HUMAN; PROTEIN; PROTEIN BINDING; SDHAF1 PROTEIN, HUMAN; SDHB PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE (UBIQUINONE); SUCCINIC ACID DERIVATIVE;

AMINO TERMINAL SEQUENCE; ARTICLE; BINDING AFFINITY; BIOGENESIS; COMPLEX II DEFICIENCY; CONTROLLED STUDY; DISEASE COURSE; ENZYME DEGRADATION; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; MOLECULAR INTERACTION; MOLECULAR PATHOLOGY; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN MOTIF; PROTEIN TRANSPORT; VITAMIN SUPPLEMENTATION; AMINO ACID SEQUENCE; CHEMISTRY; DRUG EFFECTS; FEMALE; GENETICS; HEK293 CELL LINE; INFANT; METABOLISM; MOLECULAR GENETICS; MUTATION; NEWBORN; PATHOLOGY;

AMINO ACID MOTIFS; AMINO ACID SEQUENCE; ELECTRON TRANSPORT COMPLEX II; FEMALE; HEK293 CELLS; HUMANS; HYPOXIA-INDUCIBLE FACTOR 1, ALPHA SUBUNIT; INFANT; INFANT, NEWBORN; IRON-SULFUR PROTEINS; LEUKOENCEPHALOPATHIES; MOLECULAR CHAPERONES; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN BINDING; PROTEINS; RIBOFLAVIN; SUCCINATE DEHYDROGENASE; SUCCINATES;

EID: 84957933845     PISSN: 15504131     EISSN: 19327420     Source Type: Journal    
DOI: 10.1016/j.cmet.2015.12.005     Document Type: Article

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