| First Author | Jensen N | Year | 2016 |
| Journal | Neurogenetics | Volume | 17 |
| Issue | 2 | Pages | 125-30 |
| PubMed ID | 26660102 | Mgi Jnum | J:234034 |
| Mgi Id | MGI:5788811 | Doi | 10.1007/s10048-015-0469-6 |
| Citation | Jensen N, et al. (2016) Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid. Neurogenetics 17(2):125-30 |
| abstractText | 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. |
