منابع مشابه
Fatal breathing dysfunction in a mouse model of Leigh syndrome.
Leigh syndrome (LS) is a subacute necrotizing encephalomyelopathy with gliosis in several brain regions that usually results in infantile death. Loss of murine Ndufs4, which encodes NADH dehydrogenase (ubiquinone) iron-sulfur protein 4, results in compromised activity of mitochondrial complex I as well as progressive neurodegenerative and behavioral changes that resemble LS. Here, we report the...
متن کاملWhy does Leigh syndrome respond to immunotherapy?
With interest we read the article by Chuquilin et al. about a 20yo femalewith Leigh syndromedue to them.9176T N Cmutation in the ATP6 gene who responded favourably to plasmapheresis and immunoglobulins [1]. We have the following comments and concerns. Themain ambiguity of this report is thediagnosis. Except for the current case, Leigh syndrome has not been reported to respond to immunosuppressi...
متن کاملleigh syndrome: clinical and paraclinical study
during two years study about mitochondrial disease (sep 1999-agu 2001), 15 cases of leigh syndrome (ls) were diagnosed, that consisted of 11 boys and 4 girls aged between 6 to 156 (mean: 40.5) months. most of the patients (46.7%) became symptomatic between 1-5 years of age. triggering factors were reported in 66.6% of the patients and 40% of them became symptomatic after infections. the most fr...
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 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: Biochimica et Biophysica Acta (BBA) - Bioenergetics
سال: 2016
ISSN: 0005-2728
DOI: 10.1016/j.bbabio.2016.04.218