Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

@article{Stucki2012MolecularML,
  title={Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.},
  author={Martin Stucki and David Coelho and Terttu M Suormala and Patricie Burda and Brian E. Fowler and Matthias R Baumgartner},
  journal={Human molecular genetics},
  year={2012},
  volume={21 6},
  pages={1410-8}
}
The cblD defect of intracellular vitamin B(12) metabolism can lead to isolated methylmalonic aciduria (cblD-MMA) or homocystinuria (cblD-HC), or combined methylmalonic aciduria and homocystinuria (cblD-MMA/HC). We studied the mechanism whereby MMADHC mutations can lead to three phenotypes. The effect of various expression vectors containing MMADHC modified to contain an enhanced mitochondrial leader sequence or mutations changing possible downstream sites of reinitiation of translation or… CONTINUE READING
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