Molecular Insights on Pathogenic Effects of Mutations Causing Phosphoglycerate Kinase Deficiency

Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficiency is an uncommon X-linked inherited disorder, generally characterized by various combinations of non-spherocytic hemolytic anemia, neurological dysfunctions, and myopathies. Patients rarely exhibit...

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Detalhes bibliográficos
Main Authors: Chiarelli, Laurent R., Morera, Simone M., Bianchi, Paola, Fermo, Elisa, Zanella, Alberto, Galizzi, Alessandro, Valentini, Giovanna
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3279470/
https://ncbi.nlm.nih.gov/pubmed/22348148
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0032065
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