Liedtke D, Hofmann C, Jakob F, Klopocki E, Graser S. Tissue-Nonspecific Alkaline Phosphatase-A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease. Biomolecules 2020;10(12):1648.
DOI: 10.3390/biom10121648
Riancho-Zarrabeitia L, García-Unzueta M, Tenorio JA, Gómez-Gerique JA, Ruiz Pérez VL, Heath KE, et al. Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults. Eur J Intern Med 2016;29:40-5.
DOI: 10.1016/j.ejim.2015.12.019
Whyte MP, Zhang F, Wenkert D, Mack KE, Bijanki VN, Ericson KL, et al. Hypophosphatasia: Vitamin B6 status of affected children and adults. Bone 2022;154:116204.
DOI: 10.1016/j.bone.2021.116204
Bianchi ML, Bishop NJ, Guañabens N, Hofmann C, Jakob F, Roux C, et al. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int. 2020;31(8):1445-60.
DOI: 10.1007/s00198-020-05345-9
Rassie K, Dray M, Michigami T, Cundy T. Bisphosphonate Use and Fractures in Adults with Hypophosphatasia. JBMR Plus 2019;3(10):e10223.
DOI: 10.1002/jbm4.10223
Whyte MP, Simmons JH, Moseley S, Fujita KP, Bishop N, Salman NJ, et al. Asfotase alfa for infants and young children with hypophosphatasia: 7-year outcomes of a single-arm, open-label, phase 2 extension trial. Lancet Diabetes Endocrinol 2019;7(2):93-105.
DOI: 10.1016/S2213-8587(18)30307-3
Whyte MP, Greenberg CR, Salman NJ, Bober MB, McAlister WH, Wenkert D, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med 2012;366(10::904-13.
DOI: 10.1056/NEJMoa1106173
Khan AA, Josse R, Kannu P, Villeneuve J, Paul T, Van Uum S, et al. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019;30(9):1713-22.
DOI: 10.1007/s00198-019-04921-y
Kishnani PS, Rockman-Greenbergc, Rauch f, Bhatti mt, Moseley s, Denker AE, et al. Five-year efficacy and safety of asfotase alfa therapy for adults and adolescents with hypophosphatasia. Bone 2019;149-62.
DOI: 10.1016/j.bone.2018.12.011
Greenberg CR, Evans JA, McKendry-Smith S, Redekopp S, Haworth JC, Mulivor R, et al. Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. Am J Hum Genet 1990;46(2):286-92.
Millán JL, Fishman WH. Biology of human alkaline phosphatases with special reference to cancer. Crit Rev Clin Lab Sci 1995;32(1):1-39.
DOI: 10.3109/10408369509084680
Schwartz JH, Lipmann F. Phosphate incorporation into alkaline phosphatase of E. coli. Proc Natl Acad Sci USA 1961;47(12):1996-2005.
Narisawa S, Yadav MC, Millán JL. In vivo overexpression of tissue-nonspecific alkaline phosphatase increases skeletal mineralization and affects the phosphorylation status of osteopontin. J Bone Miner Res 2013;28(7):1587-98.
DOI: 10.1002/jbmr.1901
Pettengill M, Matute JD, Tresenriter M, Hibbert J, Burgner D, Richmond P, et al. Human alkaline phosphatase dephosphorylates microbial products and is elevated in preterm neonates with a history of late-onset sepsis. PloS One 2017;12(4):e0175936.
DOI: 10.1371/journal.pone.0175936
Whyte MP. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol 2016;12(4):233-46.
DOI: 10.1038/nrendo.2016.14
Villa-Suárez JM, García-Fontana C, Andújar-Vera F, González-Salvatierra S, de Haro-Muñoz T, Contreras-Bolívar V, et al. Hypophosphatasia: A Unique Disorder of Bone Mineralization. Int J Mol Sci 2021;22(9):4303.
DOI: 10.3390/ijms22094303
Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Ménez A, Le Du MH. Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization. J Biol Chem 2001;276(33):31171-8.
DOI: 10.1074/jbc.M102788200
Whyte MP, Zhang F, Wenkert D, McAlister WH, Mack KE, Benigno MC, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone 2015;75:229-39.
DOI: 10.1016/j.bone.2015.02.022
Fauvert D, Brun-Heath I, Lia-Baldini A-S, Bellazi L, Taillandier A, Serre J-L, et al. Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet 2009;10:51.
DOI: 10.1186/1471-2350-10-51
Mornet E, Yvard A, Taillandier A, Fauvert D, Simon-Bouy B. A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population. Ann Hum Genet 2011;75:439-45.
DOI: 10.1111/j.1469-1809.2011.00642.x
Zarjou A, Jeney V, Arosio P, Poli M, Zavaczki E, Balla G, et al. Ferritin ferroxidase activity: a potent inhibitor of osteogenesis. J Bone Miner Res 2010;25(1):164-72.
DOI: 10.1359/jbmr.091002
Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, et al. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 1997;89(5):765-71.
DOI: 10.1016/S0092-8674(00)80259-7
Delgado-Calle J, Sañudo C, Sánchez-Verde L, García-Renedo RJ, Arozamena J, Riancho JA. Epigenetic regulation of alkaline phosphatase in human cells of the osteoblastic lineage. Bone 2011;49(4):830-8.
DOI: 10.1016/j.bone.2011.06.006
Kish K, Mezil Y, Ward WE, Klentrou P, Falk B. Effects of plyometric exercise session on markers of bone turnover in boys and young men. Eur J Appl Physiol 2015;115(10):2115-24.
DOI: 10.1007/s00421-015-3191-z
Marędziak M, Śmieszek A, Chrząstek K, Basinska K, Marycz K. Physical Activity Increases the Total Number of Bone-Marrow-Derived Mesenchymal Stem Cells, Enhances Their Osteogenic Potential, and Inhibits Their Adipogenic Properties. Stem Cells Int 2015;2015:379093.
DOI: 10.1155/2015/379093