Pyruvate dehydrogenase complex deficiency : mutational spectrum in Portugal, molecular mechanisms underlying pathogenic variants and potential therapeutic effect of Arginine

Pyruvate dehydrogenase complex (PDC) occupies an essential position in cellular energy production. The oxidative decarboxylation of pyruvate to acetyl-coenzyme A is conducted by a highly organized multienzyme system. Impaired PDC activity leads to a metabolic disorder affecting mainly the tissues wi...

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Detalhes bibliográficos
Autor principal: Pavlu-Pereira (author)
Formato: doctoralThesis
Idioma:eng
Publicado em: 2022
Assuntos:
Défice em complexo de piruvato desidrogenase
Análise mutacional
Mutações missense
Folding de proteínas
Correlação genótipo-fenótipo
Pyruvate dehydrogenase complex deficiency
Mutational analysis
Missense mutations
Protein misfolding
Genotype–phenotype correlation
Domínio/Área Científica::Ciências Médicas::Medicina Básica
Texto completo:http://hdl.handle.net/10451/54675
País:Portugal
Oai:oai:repositorio.ul.pt:10451/54675

Texto Completo

http://hdl.handle.net/10451/54675

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