Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

@article{Dusi2014ExomeSR,
  title={Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.},
  author={Sabrina Dusi and Lorella Valletta and Tobias B. Haack and Yugo Tsuchiya and Paola Venco and Sebastiano Pasqualato and Paola Goffrini and Marco Tigano and Nikita Demchenko and Thomas Wieland and Thomas Schwarzmayr and Tim Matthias Strom and Federica Invernizzi and Barbara Garavaglia and A Gregory and Lynn Sanford and Jeffrey Hamada and Conceiç{\~a}o Bettencourt and Henry Houlden and Luisa Chiapparini and Giovanna Simonetta Zorzi and Manju A. Kurian and Nardo Nardocci and Holger Prokisch and S J Hayflick and Ivan T. Gout and Valeria Tiranti},
  journal={American journal of human genetics},
  year={2014},
  volume={94 1},
  pages={11-22}
}
Neurodegeneration with brain iron accumulation (NBIA) comprises a clinically and genetically heterogeneous group of disorders with progressive extrapyramidal signs and neurological deterioration, characterized by iron accumulation in the basal ganglia. Exome sequencing revealed the presence of recessive missense mutations in COASY, encoding coenzyme A (CoA) synthase in one NBIA-affected subject. A second unrelated individual carrying mutations in COASY was identified by Sanger sequence analysis… CONTINUE READING

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