AGC1 deficiency associated with global cerebral hypomyelination.

@article{Wibom2009AGC1DA,
  title={AGC1 deficiency associated with global cerebral hypomyelination.},
  author={Rolf Wibom and Francesco Massimo Lasorsa and Virpi T{\"o}h{\"o}nen and Michela Barbaro and Fredrik H Sterky and Thomas Kucinski and Karin Naess and Monica Jonsson and Ciro Leonardo Pierri and Ferdinando Palmieri and Anna Wedell},
  journal={The New England journal of medicine},
  year={2009},
  volume={361 5},
  pages={489-95}
}
The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency, a novel syndrome characterized by arrested psychomotor development, hypotonia, and seizures in a child with a homozygous missense mutation in the… CONTINUE READING

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References

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Showing 1-10 of 20 references

Mitochondri - 8 . al carriers in the cytoplasmic state have a common substrate binding site

  • AJ Robinson, Kunji ERS
  • Proc Natl Acad Sci U S A
  • 2006

Reduced Nacetylaspartate levels in mice lacking aralar , a brainand muscletype mitochondrial aspartateglutamate carrier

  • MA Jalil, L Begum, L Contreras
  • J Biol Chem
  • 2005

Developmental changes in the Ca 2 +regulated mitochondrial aspartateglutamate carrier aralar 1 in brain and prominent expression in the spinal cord

  • M Ramos, A delArco, B Pardo
  • Brain Res Dev Brain Res
  • 2003

Erratum, Anal Biochem

  • F Palmieri, C Indiveri, F Bisaccia
  • 2003

Expression of the aspartate / glutamate mitochondrial carriers aralar 1 and citrin during development and in adult rat tissues

  • A delArco, J Morcillo, Martínez-3. Morales
  • Eur J Biochem
  • 2002

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