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10.1007/s10048-015-0469-6

http://scihub22266oqcxt.onion/10.1007/s10048-015-0469-6
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suck abstract from ncbi


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pmid26660102      Neurogenetics 2016 ; 17 (ä): 125-30
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  • Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid #MMPMID26660102
  • Jensen N; Autzen JK; Pedersen L
  • Neurogenetics 2016[]; 17 (ä): 125-30 PMID26660102show ga
  • 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 cerebrospinal fluid (CSF). We here show that Slc20a2-KO mice indeed have a high CSF [Pi] in agreement with a role of PiT2 in Pi export from the CSF. The implications in relation to disease mechanism are discussed.
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