Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh Syndrome

Molecular Genetics and Metabolism

Volumn 90, Issue 1, 2007, Pages 10-14

  Ugalde, Cristina ^a,b   Hinttala, Reetta ^c,d   Timal, Sharita ^a   Smeets, Roel ^a   Rodenburg, Richard J T ^a   Uusimaa, Johanna ^c,d   van Heuvel, Lambert P ^a   Nijtmans, Leo G J ^a   Majamaa, Kari ^c,d,e   Smeitink, Jan A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^c OULU UNIVERSITY HOSPITAL   (Finland)

^d UNIVERSITY OF OULU   (Finland)

^e UNIVERSITY OF TURKU   (Finland)

Author keywords

Assembly; Leigh Syndrome; Mitochondrial disorders; mtDNA; NADH ubiquinone oxidorreductase deficiency

Indexed keywords

MITOCHONDRIAL ENZYME; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; CASE REPORT; CHEMICAL ANALYSIS; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME ISOLATION; FIBROBLAST; GENE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; LEIGH DISEASE; MALE; MISSENSE MUTATION; MITOCHONDRIAL GENETICS; ND2 GENE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; SKELETAL MUSCLE; TWO DIMENSIONAL GEL ELECTROPHORESIS;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CELLS, CULTURED; CHILD; ELECTRON TRANSPORT COMPLEX I; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NADH DEHYDROGENASE;

EID: 33845225715     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2006.08.003     Document Type: Article

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