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...

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Gepubliceerd in:Sci Rep
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2016
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Article
Online toegang: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
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