Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with primary clinical manifestations of myopathic exercise intolerance and a macrocytic sideroblastic anemia. One cause of MLASA is recessive mutations in PUS1, which encodes pseudo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Mangum, Joshua E., Hardee, Justin P., Fix, Dennis K., Puppa, Melissa J., Elkes, Johnathon, Altomare, Diego, Bykhovskaya, Yelena, Campagna, Dean R., Schmidt, Paul J., Sendamarai, Anoop K., Lidov, Hart G. W., Barlow, Shayne C., Fischel-Ghodsian, Nathan, Fleming, Mark D., Carson, James A., Patton, Jeffrey R.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4873756/
https://ncbi.nlm.nih.gov/pubmed/27197761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep26202
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados