Carregant...

Compromised Catalysis and Potential Folding Defects in in Vitro Studies of Missense Mutants Associated with Hereditary Phosphoglucomutase 1 Deficiency

Recent studies have identified phosphoglucomutase 1 (PGM1) deficiency as an inherited metabolic disorder in humans. Affected patients show multiple disease phenotypes, including dilated cardiomyopathy, exercise intolerance, and hepatopathy, reflecting the central role of the enzyme in glucose metabo...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:J Biol Chem
Autors principals: Lee, Yingying, Stiers, Kyle M., Kain, Bailee N., Beamer, Lesa J.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2014
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231678/
https://ncbi.nlm.nih.gov/pubmed/25288802
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.597914
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!