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Volumn 155, Issue 10, 2014, Pages 3891-3898

Genetic rescue of glycosylation-deficient FGF23 in the GALNT3 knockout mouse

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 23; MESSENGER RNA; PHOSPHATE; FIBROBLAST GROWTH FACTOR; N ACETYLGALACTOSAMINYLTRANSFERASE; POLYPEPTIDE N-ACETYLGALACTOSAMINYLTRANSFERASE;

EID: 84907190432     PISSN: 00137227     EISSN: 19457170     Source Type: Journal    
DOI: 10.1210/en.2014-1199     Document Type: Article
Times cited : (18)

References (23)
  • 1
    • 2142746439 scopus 로고    scopus 로고
    • FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis
    • Shimada T, Hasegawa H, Yamazaki Y, et al. FGF-23 is a potent regulator of vitamin D metabolism and phosphate homeostasis. J Bone Miner Res. 2004;19(3):429-435.
    • (2004) J Bone Miner Res , vol.19 , Issue.3 , pp. 429-435
    • Shimada, T.1    Hasegawa, H.2    Yamazaki, Y.3
  • 2
    • 3042634460 scopus 로고    scopus 로고
    • Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis
    • Larsson T, Marsell R, Schipani E, et al. Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis. Endocrinology. 2004;145(7):3087-3094.
    • (2004) Endocrinology , vol.145 , Issue.7 , pp. 3087-3094
    • Larsson, T.1    Marsell, R.2    Schipani, E.3
  • 3
    • 9244240970 scopus 로고    scopus 로고
    • Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders
    • Bai X, Miao D, Li J, Goltzman D, Karaplis AC. Transgenic mice overexpressing human fibroblast growth factor 23 (R176Q) delineate a putative role for parathyroid hormone in renal phosphate wasting disorders. Endocrinology. 2004;145(11):5269-5279.
    • (2004) Endocrinology , vol.145 , Issue.11 , pp. 5269-5279
    • Bai, X.1    Miao, D.2    Li, J.3    Goltzman, D.4    Karaplis, A.C.5
  • 4
    • 14344279878 scopus 로고    scopus 로고
    • Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia
    • Shimada T, Mizutani S, Muto T, et al. Cloning and characterization of FGF23 as a causative factor of tumor-induced osteomalacia. Proc Natl Acad Sci U S A. 2001;98(11):6500-6505.
    • (2001) Proc Natl Acad Sci U S A , vol.98 , Issue.11 , pp. 6500-6505
    • Shimada, T.1    Mizutani, S.2    Muto, T.3
  • 5
    • 26844568409 scopus 로고    scopus 로고
    • Vitamin D receptorindependent FGF23 actions in regulating phosphate and vitamin D metabolism
    • Shimada T, Yamazaki Y, Takahashi M, et al. Vitamin D receptorindependent FGF23 actions in regulating phosphate and vitamin D metabolism. Am J Physiol Renal Physiol. 2005;289(5):F1088-F1095.
    • (2005) Am J Physiol Renal Physiol , vol.289 , Issue.5 , pp. F1088-F1095
    • Shimada, T.1    Yamazaki, Y.2    Takahashi, M.3
  • 6
    • 0033763097 scopus 로고    scopus 로고
    • Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
    • ADHR Consortium
    • ADHR Consortium. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000; 26(3):345-348.
    • (2000) Nat Genet , vol.26 , Issue.3 , pp. 345-348
  • 7
    • 0035186837 scopus 로고    scopus 로고
    • Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23
    • White KE, Carn G, Lorenz-Depiereux B, et al. Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23. Kidney Int. 2001;60(6):2079-2086.
    • (2001) Kidney Int , vol.60 , Issue.6 , pp. 2079-2086
    • White, K.E.1    Carn, G.2    Lorenz-Depiereux, B.3
  • 8
    • 77950395245 scopus 로고    scopus 로고
    • Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations
    • Ichikawa S, Baujat G, Seyahi A, et al. Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A. 2010;152A(4):896-903.
    • (2010) Am J Med Genet A , vol.152 A , Issue.4 , pp. 896-903
    • Ichikawa, S.1    Baujat, G.2    Seyahi, A.3
  • 9
    • 17844397173 scopus 로고    scopus 로고
    • A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: Evidence that the disorder is autosomal recessive
    • Ichikawa S, Lyles KW, Econs MJ. A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. J Clin Endocrinol Metab. 2005;90(4):2420-2423.
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.4 , pp. 2420-2423
    • Ichikawa, S.1    Lyles, K.W.2    Econs, M.J.3
  • 10
    • 2642546399 scopus 로고    scopus 로고
    • Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis
    • Topaz O, Shurman DL, Bergman R, et al. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet. 2004;36(6):579-581.
    • (2004) Nat Genet , vol.36 , Issue.6 , pp. 579-581
    • Topaz, O.1    Shurman, D.L.2    Bergman, R.3
  • 12
    • 33846528466 scopus 로고    scopus 로고
    • Hyperostosis-hyperphosphatemia syndrome: A congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 1
    • Frishberg Y, Ito N, Rinat C, et al. Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 1. J Bone Miner Res. 2007;22(2):235-242
    • (2007) J Bone Miner Res , vol.22 , Issue.2 , pp. 235-242
    • Frishberg, Y.1    Ito, N.2    Rinat, C.3
  • 13
    • 34848889715 scopus 로고    scopus 로고
    • Two novel GALNT3mutations in familial tumoral calcinosis
    • Garringer HJ, Mortazavi SMJ, Esteghamat F, et al. Two novel GALNT3mutations in familial tumoral calcinosis.AmJ Med Genet A. 2007;143(20):2390-2396.
    • (2007) AmJ Med Genet A , vol.143 , Issue.20 , pp. 2390-2396
    • Garringer, H.J.1    Mortazavi, S.M.J.2    Esteghamat, F.3
  • 14
    • 34249855902 scopus 로고    scopus 로고
    • Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations
    • Ichikawa S, Guigonis V, Imel EA, et al. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. J Clin Endocrinol Metab. 2007;92(5):1943-1947.
    • (2007) J Clin Endocrinol Metab , vol.92 , Issue.5 , pp. 1943-1947
    • Ichikawa, S.1    Guigonis, V.2    Imel, E.A.3
  • 15
    • 33751533213 scopus 로고    scopus 로고
    • Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene
    • Ichikawa S, Imel EA, Sorenson AH, et al. Tumoral calcinosis presenting with eyelid calcifications due to novel missense mutations in the glycosyl transferase domain of the GALNT3 gene. J Clin Endocrinol Metab. 2006;91(11):4472-4475.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.11 , pp. 4472-4475
    • Ichikawa, S.1    Imel, E.A.2    Sorenson, A.H.3
  • 16
    • 66649090939 scopus 로고    scopus 로고
    • Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression
    • Ichikawa S, Sorenson AH, Austin AM, et al. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression. Endocrinology. 2009;150(6):2543-2550.
    • (2009) Endocrinology , vol.150 , Issue.6 , pp. 2543-2550
    • Ichikawa, S.1    Sorenson, A.H.2    Austin, A.M.3
  • 17
    • 81755163635 scopus 로고    scopus 로고
    • Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice
    • Farrow EG, Yu X, Summers LJ, et al. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A. 2011;108(46):E1146-E1155.
    • (2011) Proc Natl Acad Sci U S A , vol.108 , Issue.46 , pp. E1146-E1155
    • Farrow, E.G.1    Yu, X.2    Summers, L.J.3
  • 18
    • 82355188241 scopus 로고    scopus 로고
    • Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis
    • Ichikawa S, Austin AM, Gray AK, Allen MR, Econs MJ. Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis. Endocrinology. 2011;152(12):4504-4513.
    • (2011) Endocrinology , vol.152 , Issue.12 , pp. 4504-4513
    • Ichikawa, S.1    Austin, A.M.2    Gray, A.K.3    Allen, M.R.4    Econs, M.J.5
  • 19
    • 84856196884 scopus 로고    scopus 로고
    • A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells
    • Ichikawa S, Austin AM, Gray AK, Econs MJ. A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells. J Bone Miner Res. 2012;27(2):453-460.
    • (2012) J Bone Miner Res , vol.27 , Issue.2 , pp. 453-460
    • Ichikawa, S.1    Austin, A.M.2    Gray, A.K.3    Econs, M.J.4
  • 20
    • 18444375871 scopus 로고    scopus 로고
    • Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo
    • Shimada T, Muto T, Urakawa I, et al. Mutant FGF-23 responsible for autosomal dominant hypophosphatemic rickets is resistant to proteolytic cleavage and causes hypophosphatemia in vivo. Endocrinology. 2002;143(8):3179-3182.
    • (2002) Endocrinology , vol.143 , Issue.8 , pp. 3179-3182
    • Shimada, T.1    Muto, T.2    Urakawa, I.3
  • 21
    • 80655147297 scopus 로고    scopus 로고
    • Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans
    • Imel EA, Peacock M, Gray AK, Padgett LR, Hui SL, Econs MJ. Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans. J Clin Endocrinol Metab. 2011;96(11):3541-3549.
    • (2011) J Clin Endocrinol Metab , vol.96 , Issue.11 , pp. 3541-3549
    • Imel, E.A.1    Peacock, M.2    Gray, A.K.3    Padgett, L.R.4    Hui, S.L.5    Econs, M.J.6
  • 22
    • 34249664523 scopus 로고    scopus 로고
    • FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets
    • Imel EA, Hui SL, Econs MJ. FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets. J Bone Miner Res. 2007;22(4):520-526.
    • (2007) J Bone Miner Res , vol.22 , Issue.4 , pp. 520-526
    • Imel, E.A.1    Hui, S.L.2    Econs, M.J.3
  • 23
    • 84900558089 scopus 로고    scopus 로고
    • Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated inHHRH, does not affect phosphate or calcium homeostasis in mice
    • Myakala K, Motta S, Murer H, et al. Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated inHHRH, does not affect phosphate or calcium homeostasis in mice. Am J Physiol Renal Physiol. 2014;306(8):F833-F843.
    • (2014) Am J Physiol Renal Physiol , vol.306 , Issue.8 , pp. F833-F843
    • Myakala, K.1    Motta, S.2    Murer, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.