Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid

@inproceedings{Jensen2015Slc20a2IC,
  title={Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid},
  author={Nina Boje Kibsgaard Jensen and Jacob Kwasi Autzen and Lene Pedersen},
  booktitle={NEUROGENETICS},
  year={2015}
}
Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40 % of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr’s disease). The disease characteristic, cerebrovascular-associated calcifications, is also present in Slc20a2-knockout (KO) mice. Little is known about the specific role(s) of PiT2 in the brain. Recent in vitro studies, however, suggest a role in regulation of the [Pi] in… CONTINUE READING

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Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics • 2015

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