A highly prevalent equine glycogen storage disease is explained by constitutive activation of a mutant glycogen synthase

BACKGROUND: Equine type 1 polysaccharide storage myopathy (PSSM1) is associated with a missense mutation (R309H) in the glycogen synthase (GYS1) gene, enhanced glycogen synthase (GS) activity and excessive glycogen and amylopectate inclusions in muscle. METHODS: Equine muscle biochemical and recombi...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Biochim Biophys Acta
Autors principals: Maile, C.A., Hingst, J. R., Mahalingan, K. K., O'Reilly, A. O., Cleasby, M. E., Mickelson, J. R., McCue, M. E., Anderson, S. M., Hurley, T. D., Wojtaszewski, J. F. P., Piercy, R. J.
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5148651/
https://ncbi.nlm.nih.gov/pubmed/27592162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbagen.2016.08.021
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars