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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Bibliographic Details
Main Author: Pavlu-Pereira (author)
Format: doctoralThesis
Language:eng
Published: 2022
Subjects:
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
Online Access:http://hdl.handle.net/10451/54675
Country:Portugal
Oai:oai:repositorio.ul.pt:10451/54675

Internet

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

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