1 resultado para Shared component model
em Université de Lausanne, Switzerland
Filtro por publicador
- Aberdeen University (3)
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- Academic Archive On-line (Jönköping University; Sweden) (2)
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- Aquatic Commons (3)
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- Archimer: Archive de l'Institut francais de recherche pour l'exploitation de la mer (2)
- Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco (4)
- Aston University Research Archive (28)
- Avian Conservation and Ecology - Eletronic Cientific Hournal - Écologie et conservation des oiseaux: (1)
- Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (18)
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- Biblioteca Digital de Teses e Dissertações Eletrônicas da UERJ (1)
- BORIS: Bern Open Repository and Information System - Berna - Suiça (24)
- Boston University Digital Common (5)
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- Bulgarian Digital Mathematics Library at IMI-BAS (5)
- CaltechTHESIS (1)
- Cambridge University Engineering Department Publications Database (12)
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- Chinese Academy of Sciences Institutional Repositories Grid Portal (23)
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- Comissão Econômica para a América Latina e o Caribe (CEPAL) (1)
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- Duke University (3)
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- Repositório digital da Fundação Getúlio Vargas - FGV (4)
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- Repositório Institucional UNESP - Universidade Estadual Paulista "Julio de Mesquita Filho" (30)
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- RUN (Repositório da Universidade Nova de Lisboa) - FCT (Faculdade de Cienecias e Technologia), Universidade Nova de Lisboa (UNL), Portugal (1)
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- Savoirs UdeS : plateforme de diffusion de la production intellectuelle de l’Université de Sherbrooke - Canada (2)
- Universidad de Alicante (6)
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- Universidade de Lisboa - Repositório Aberto (1)
- Universidade dos Açores - Portugal (1)
- Universidade Estadual Paulista "Júlio de Mesquita Filho" (UNESP) (1)
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- Université de Lausanne, Switzerland (1)
- Université de Montréal, Canada (7)
- University of Michigan (28)
- University of Queensland eSpace - Australia (19)
- University of Washington (2)
- WestminsterResearch - UK (3)
Resumo:
Eukaryotic cells generate energy in the form of ATP, through a network of mitochondrial complexes and electron carriers known as the oxidative phosphorylation system. In mammals, mitochondrial complex I (CI) is the largest component of this system, comprising 45 different subunits encoded by mitochondrial and nuclear DNA. Humans diagnosed with mutations in the gene NDUFS4, encoding a nuclear DNA-encoded subunit of CI (NADH dehydrogenase ubiquinone Fe-S protein 4), typically suffer from Leigh syndrome, a neurodegenerative disease with onset in infancy or early childhood. Mitochondria from NDUFS4 patients usually lack detectable NDUFS4 protein and show a CI stability/assembly defect. Here, we describe a recessive mouse phenotype caused by the insertion of a transposable element into Ndufs4, identified by a novel combined linkage and expression analysis. Designated Ndufs4(fky), the mutation leads to aberrant transcript splicing and absence of NDUFS4 protein in all tissues tested of homozygous mice. Physical and behavioral symptoms displayed by Ndufs4(fky/fky) mice include temporary fur loss, growth retardation, unsteady gait, and abnormal body posture when suspended by the tail. Analysis of CI in Ndufs4(fky/fky) mice using blue native PAGE revealed the presence of a faster migrating crippled complex. This crippled CI was shown to lack subunits of the "N assembly module", which contains the NADH binding site, but contained two assembly factors not present in intact CI. Metabolomic analysis of the blood by tandem mass spectrometry showed increased hydroxyacylcarnitine species, implying that the CI defect leads to an imbalanced NADH/NAD(+) ratio that inhibits mitochondrial fatty acid β-oxidation.