Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.

@article{Lindhurst2006KnockoutOS,
  title={Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia.},
  author={Marjorie J. Lindhurst and Giuseppe Fiermonte and Shiwei Song and Eduard Alexander Struys and Francesco De Leonardis and Pamela L Schwartzberg and Amy Xin Chen and Alessandra Castegna and Nanda Verhoeven and Christopher K. Mathews and Ferdinando Palmieri and Leslie G. Biesecker},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={2006},
  volume={103 43},
  pages={15927-32}
}
SLC25A19 mutations cause Amish lethal microcephaly (MCPHA), which markedly retards brain development and leads to alpha-ketoglutaric aciduria. Previous data suggested that SLC25A19, also called DNC, is a mitochondrial deoxyribonucleotide transporter. We generated a knockout mouse model of Slc25a19. These animals had 100% prenatal lethality by embryonic day 12. Affected embryos at embryonic day 10.5 have a neural-tube closure defect with ruffling of the neural fold ridges, a yolk sac… CONTINUE READING
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