cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

@article{Zavadkov2005cblETO,
  title={cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.},
  author={Petra Zavad{\'a}kov{\'a} and Brian E. Fowler and Terttu M Suormala and Zorka Novotna and P. M{\"u}ller and Julia B. Hennermann and Jiř{\'i} Zeman and Mar{\'i}a Ant{\`o}nia Vilaseca and Laura Vilarinho and Sven Gutsche and Ekkehard K G Wilichowski and Gerd Horneff and V. Kozich},
  journal={Human mutation},
  year={2005},
  volume={25 3},
  pages={239-47}
}
The cblE type of homocystinuria is a rare autosomal recessive disorder caused by impaired reductive activation of methionine synthase. Although earlier biochemical studies proposed that the methionine synthase enzyme might be activated by two different reducing systems, mutations were reported in only the methionine synthase reductase gene (MTRR) in cblE patients. The pathogenicity of MTRR mutations, however, has not yet been tested functionally. We report on nine patients of European origin… CONTINUE READING
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A new patient with functional methionine synthase deficiency: evidence for a third complementation class [Abstract

  • B Fowler, T Suormala, M Günther, J Till, JE. Wraith
  • J Inherit Metab Dis 20(Suppl 1):21(P22.12).
  • 1997
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