منابع مشابه
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site m...
متن کاملDecreased affinity for oxygen of cytochrome-c oxidase in Leigh syndrome caused by SURF1 mutations.
Mutations in the gene SURF1 prevent synthesis of cytochrome-c oxidase (COX)-specific assembly protein and result in a fatal neurological disorder, Leigh syndrome. Because this severe COX deficiency presents with barely detectable changes of cellular respiratory rates under normoxic conditions, we analyzed the respiratory response to low oxygen in cultured fibroblasts harboring SURF1 mutations w...
متن کاملLeigh Syndrome in Drosophila melanogaster
Leigh Syndrome (LS) is the most common early-onset, progressive mitochondrial encephalopathy usually leading to early death. The single most prevalent cause of LS is occurrence of mutations in the SURF1 gene, and LS(Surf1) patients show a ubiquitous and specific decrease in the activity of mitochondrial respiratory chain complex IV (cytochrome c oxidase, COX). SURF1 encodes an inner membrane mi...
متن کاملStudies on cytochrome oxidase. IV. The cytochrome oxidase activity.
where the activity is determined by measuring the rate of oxidation of reduced cytochrome c. Smith (6, 7), Conrad (8, 9), Wainio (10-13) et ~2. have extensively investigated the effect of various factors on the cytochrome oxidase activity measured by System 2 with soluble and insoluble preparations of cytochrome oxidase, whereas among those (14-30) who have employed System 1, Slater (5), using ...
متن کاملSurf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis.
Biogenesis of mitochondrial cytochrome c oxidase (COX) relies on a large number of assembly factors, among them the transmembrane protein Surf1. The loss of human Surf1 function is associated with Leigh syndrome, a fatal neurodegenerative disorder caused by severe COX deficiency. In the bacterium Paracoccus denitrificans, two homologous proteins, Surf1c and Surf1q, were identified, which we cha...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1987
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-1-6-6