SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Nature Genetics

Volumn 41, Issue 6, 2009, Pages 654-656

  Ghezzi, Daniele ^a   Goffrini, Paola ^a   Uziel, Graziella ^a   Horvath, Rita ^c,d   Klopstock, Thomas ^d   Lochmüller, Hanns ^d,e   D'Adamo, Pio ^f   Gasparini, Paolo ^f   Strom, Tim M ^g   Prokisch, Holger ^g   Invernizzi, Federica ^a   Ferrero, Ileana ^b   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f UNIVERSITY OF TRIESTE   (Italy)

^g INSTITUTE OF EPIDEMIOLOGY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 1; SUCCINATE DEHYDROGENASE; SUCCINATE DEHYDROGENASE (UBIQUINONE); IRON SULFUR PROTEIN; PROTEIN; PROTEIN SUBUNIT; SDHAF1 PROTEIN, HUMAN;

ANIMAL CELL; ARTICLE; CELL STRAIN COS7; COMPLEX II DEFICIENCY; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GEL ELECTROPHORESIS; GENE; GENE EXPRESSION; GENE MUTATION; HELA CELL; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INFANTILE LEUKOENCEPHALOPATHY; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN BLOTTING; SDHAF1 GENE; WILD TYPE; ENZYMOLOGY; GENE DELETION; GENETIC COMPLEMENTATION; GENETICS; INFANT; MUTATION; PROTEIN SUBUNIT; YEAST;

GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; IRON-SULFUR PROTEINS; LEUKOENCEPHALOPATHIES; MUTATION; PROTEIN SUBUNITS; PROTEINS; SEQUENCE DELETION; SUCCINATE DEHYDROGENASE; YEASTS;

EID: 67349189168     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.378     Document Type: Article

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