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SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. Bergwitz C, et al. Among authors: carpenter to. Am J Hum Genet. 2006 Feb;78(2):179-92. doi: 10.1086/499409. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358214 Free PMC article.
A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C. Jaureguiberry G, et al. Among authors: carpenter to. Am J Physiol Renal Physiol. 2008 Aug;295(2):F371-9. doi: 10.1152/ajprenal.00090.2008. Epub 2008 May 14. Am J Physiol Renal Physiol. 2008. PMID: 18480181 Free PMC article.
The resulting overall reduction of function of this NaPi-IIc mutant to 16%, taken together with complete loss of expression and function of g.4225_50del(V446Stop), thus appears to be sufficient to explain the phenotype in our patient. Furthermore, the stoichi …
The resulting overall reduction of function of this NaPi-IIc mutant to 16%, taken together with complete loss of expression and funct …
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C. Dasgupta D, et al. Among authors: carpenter to. J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3. J Am Soc Nephrol. 2014. PMID: 24700880 Free PMC article.
Hypophosphatemia promotes lower rates of muscle ATP synthesis.
Pesta DH, Tsirigotis DN, Befroy DE, Caballero D, Jurczak MJ, Rahimi Y, Cline GW, Dufour S, Birkenfeld AL, Rothman DL, Carpenter TO, Insogna K, Petersen KF, Bergwitz C, Shulman GI. Pesta DH, et al. Among authors: carpenter to. FASEB J. 2016 Oct;30(10):3378-3387. doi: 10.1096/fj.201600473R. Epub 2016 Jun 23. FASEB J. 2016. PMID: 27338702 Free PMC article.
Hypophosphatemia can lead to muscle weakness and respiratory and heart failure, but the mechanism is unknown. To address this question, we noninvasively assessed rates of muscle ATP synthesis in hypophosphatemic mice by using in vivo saturation transfer [(31)P]-magn …
Hypophosphatemia can lead to muscle weakness and respiratory and heart failure, but the mechanism is unknown. To address this …
Rickets.
Carpenter TO, Shaw NJ, Portale AA, Ward LM, Abrams SA, Pettifor JM. Carpenter TO, et al. Nat Rev Dis Primers. 2017 Dec 21;3:17101. doi: 10.1038/nrdp.2017.101. Nat Rev Dis Primers. 2017. PMID: 29265106 Review.
168 results