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

@inproceedings{Mangum2016PseudouridineS1,
  title={Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations},
  author={Joshua E. Mangum and Justin P Hardee and Dennis K Fix and Melissa J. Puppa and Johnathon Elkes and Diego Altomare and Yelena Bykhovskaya and Dean R Campagna and Paul J Schmidt and Anoop K Sendamarai and H G W Lidov and Shayne C. Barlow and Nathan Fischel-Ghodsian and Mark D Fleming and James A Carson and Jeffrey R. Patton},
  booktitle={Scientific reports},
  year={2016}
}
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 pseudouridine (Ψ) synthase 1 (Pus1p). Here we describe a mouse model of MLASA due to mutations in PUS1. As expected, certain Ψ modifications were missing in cytoplasmic and mitochondrial tRNAs from Pus1… CONTINUE READING
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