• 1
    McComb RB, Bowers GN Jr, Posen S 1979 Alkaline Phosphatases, Plenum, New York, NY, USA.
  • 2
    Robison R 1923 The possible significance of hexosephosphoric esters in ossification. Biochem J 17:286293.
  • 3
    Rathbun JC 1948 Hypophosphatasia: A new developmental anomaly. Am J Dis Child 75:822831.
  • 4
    Whyte MP 2001 Hypophosphatasia. In: ScriverCR, BeaudetAL, SlyWS, ValleD, ChildsB, KinzlerKW, VogelsteinB (eds.) The Metabolic and Molecular Bases of Inherited Disease, 8th ed., vol. 4. McGraw-Hill, New York, NY, USA, pp. 53135329.
  • 5
    Weiss M, Cole DEC, Ray K, Whyte M, Laffeerty MA, Mulivor RA, Harris H 1988 A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proc Natl Acad Sci USA 85:76667669.
  • 6
    Henthorn PS, Raducha M, Fedde K, Lafferty MA, Whyte MP 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci USA 89:99249928.
  • 7
    Henthorn PS, Whyte MP 1992 Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. Clin Chem 38:25012505.
  • 8
    Greenberg CR, Taylor CLD, Haworth JC, Seargeant LE, Philips S, Triggs-Raine B, Chodirker BN 1993 A homoallelic Gly317 to Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian Mennonites. Genomics 17:215217.
  • 9
    Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, Satomura K, Yasui N, Okada S, Nakayama M 1996 Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab 81:44584461.
  • 10
    Orimo H, Hayashi Z, Watanabe A, Hirayama T, Hirayama T, Shimada T 1994 Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. Hum Mol Genet 3:16831684.
  • 11
    Mornet E, Taillandier A, Peyramaure S, Kaper F, Mullaer F, Brenner R, Bussiere P, Froisinger P, Godard J, Le Merrer M, Oury JF, Plauchu H, Puddu P, Rival JM, Superti-Furga A, Touraine RL, Serre JL, Simon-Bouy S 1998 Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet 6:308314.
  • 12
    Mumm S, Jones J, Finnegan P, Whyte MP 2001 Hypophosphatasia: Molecular diagnosis of Rathbun's original case J Bone Miner Res 16:1724727.
  • 13
    Mornet E 2000 Hypophosphatasia: Mutations in the tissue-nonspecific alkaline phosphatase gene Hum Mutat 15:309315.
  • 14
    Zurutuza L, Muller F, Gibrat JF, Taillandier A, Simon-Bouy B, Serre JL, Mornet A 1999 Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet 8:10391046.
  • 15
    Mornet E, Stura E, Lia-Baldini AS, Stigbrand T, Menez A, Le Du MH 2001 Structural evidences for a functional role of human tissue non specific alkaline phosphatase in bone mineralization. J Biol Chem 276:311711178.
  • 16
    Fukushi-Ire M, Ito M, Amaya Y, Ozawa H, Omura S, Ikehara Y, Oda K 2000 Possible interference between tissue-non specific alkaline phosphatase with an Arg54 to Cys substitution and a counterpart with an Asp277 to Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. Biochem J 348:633642.
  • 17
    Shibata H, Fukushi M, Igarashi A, Misumi Y, Ikehara Y, Ohashi Y, Oda K 1998 Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162 to Thr mutation associated with lethal hypophosphatasia. J Biochem 123:968977.
  • 18
    Fukushi M, Amizuka N, Hoshi K, Ozawa H, Kumagai H, Omura S, Misumi Y, Ikehara Y, Oda K Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317 to Asp substitution associated with lethal hypophosphatasia. Biochem Biophys Res Commun 246:613618.
  • 19
    Tomic M, Sunvejaric I, Savtchenko ES, Blumenberg M 1990 A rapid and simple method for introducing specific mutations into any position of DNA leaving all other positions unaltered. Nucleic Acids Res 18:1656.
  • 20
    Sanchez R, Sali A 2000 Comparative protein structure modeling. Introduction and practical examples with modeller. Methods Mol Biol 143:97129.
  • 21
    Le Du MH, Stigbrand T, Taussig MJ, Menez A, Stura EA 2001 Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. J Biol Chem 276:91589165.
  • 22
    Bossi M, Hoylaerts MF, Millan JL 1993 Modifications in a flexible surface loop modulate the isozyme-specific properties of mammalian alkaline phosphatases. J Biol Chem 288:2540925416.
  • 23
    Pizauro JM, Ciancaglini P, Leone FA 1995 Characterization of the phosphatidylinositol-specific phospholipase C-released form of rat osseous plate alkaline phosphatase and its possible significance on endochondral ossification. Mol Cell Biochem 152:121129.
  • 24
    Heinonen JK, Lahti RJ 1981 A new and convenient colorimetric determination of inorganic orthophosphate and its application to the assay of inorganic pyrophosphatase. Anal Biochem 113:313317.
  • 25
    Whitby LG, Moss DW 1975 Analysis of heat inactivation curves of alkaline phosphatase isoenzymes in serum. Clin Chim Acta 59:361367.
  • 26
    Müller HL, Yamazaki M, Mishigami T, Kageyama T, Schönau E, Schneider P, Ozono K 2000 Asp361 Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab 85:743747.
  • 27
    Hoylaerts MF, Manes T, Millán JL 1997 Mammalian alkaline phosphatases are allosteric enzymes. J Biol Chem 272:2278122787.
  • 28
    Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I 2001 A novel point mutation (C571T) in the tissue-nonspecific alkaline phosphatase gene in a case of adult-type hypophosphatasia. Oral Dis 7:331335.
  • 29
    Goseki-Sone M, Orimo H, Iimura T, Takagi Y, Watanabe H, Taketa K, Sato S, Mayanagi H, Shimada T, Oida S 1998 Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. Hum Mutat Suppl 1:S263S267.
  • 30
    Narisawa S, Fröhlander N, Millán JL 1997 Inactivation of two mouse alkaline phosphatase genes and establishment of a mouse model of infantile hypophosphatasia. Dev Dyn 208:432446.
  • 31
    Waymire KG, Mahuren JD, Jaje JM, Guilarte TR, Coburn SP, MacGregor GR 1995 Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B6. Nat Genet 11:4551.
  • 32
    Narisawa S, Wennberg C, Millán JL 2001 Abnormal vitamin B6 metabolism causes multiple abnormalities, but not impaired bone mineralization in alkaline phosphatase knockout mice J Pathol 193:125133.
  • 33
    Johnson KA, Hessle L, Wennberg C, Mauro S, Narisawa S, Goding J, Sano K, Millán JL, Terkeltaub R 2000 Tissue-nonspecific alkaline phosphatase (TNAP) and plasma cell membrane glycoprotein-1 (PC-1) act as selective and mutual antagonists of mineralizing activity by murine osteoblasts. Am J Physiol Regul Integr Physiol 279:R1365R1377.
  • 34
    Fedde KN, Blair L, Silverstein J, Weinstein RS, Waymire K, MacGregor GR, Narisawa S, Millán JL, Whyte MP 1999 Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. J Bone Miner Res 14:20152026.