Three novel SURF-1 mutations in Japanese patients with Leigh syndrome

Pediatric Neurology

Volumn 26, Issue 3, 2002, Pages 196-200

  Ogawa, Yukiko ^a   Naito, Etsuo ^a   Ito, Michinori ^a   Yokota, Ichiro ^a   Saijo, Takahiko ^a   Shinahara, Kumi ^a   Kuroda, Yasuhiro ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LACTIC ACID; PYRUVIC ACID;

ARTICLE; CASE REPORT; CONTROLLED STUDY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; LEIGH DISEASE; LYMPHOBLASTOID CELL; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; EXONS; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; JAPAN; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEINS;

EID: 0036216869     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0887-8994(01)00382-4     Document Type: Article

References (20)

1. Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease)
2. Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency
3. Genetic heterogeneity in Leigh syndrome
4. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
5. SURF 1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
6. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia
7. Characterization of cytochrome c oxidase mutants in human fibroblasts
8. An electrotransport system associated with the outer membrane of liver mitochondria; A biological and morphological study
9. Human mitochondrial electron transport chain; Assay of succinate: Cytochrome c reductase in leukocytes, platelets and cultured fibroblasts
10. Cytochrome oxidase from beef heart mitochondria
11. Protein measurement with the Foin phenol reagent
12. A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephamyopathies
13. Rapid detection of the A→G8344 mutation of mtDNA in Italian families with myoclonus epilepsy and ragged red fibers (MERRF)
14. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
15. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
16. Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients
17. Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency
18. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients
19. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
20. Characterization of SURF-1 expression and Surf1-p function in normal and disease conditions