The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
MeSH Review

Hypophosphatasia

 
 
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.
 

Disease relevance of Hypophosphatasia

 

High impact information on Hypophosphatasia

  • Hypophosphatasia features selective deficiency of activity of the tissue-nonspecific (liver/bone/kidney) alkaline phosphatase (ALP) isoenzyme (TNSALP); placental and intestinal ALP isoenzyme (PALP and IALP, respectively) activity is not reduced [6].
  • Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy [6].
  • Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase [7].
  • Our findings help to explain the general absence of symptoms of vitamin B6 excess or deficiency in hypophosphatasia, and provide evidence that TNSALP acts as an ectoenzyme to regulate extracellular rather than intracellular concentrations of PLP (the cofactor form of vitamin B6) and perhaps other phosphate compounds [7].
  • Our findings identify increased circulating PLP concentration as a marker for hypophosphatasia and provide further evidence that tissue nonspecific AP acts in vitamin B6 metabolism [8].
 

Chemical compound and disease context of Hypophosphatasia

 

Biological context of Hypophosphatasia

 

Anatomical context of Hypophosphatasia

 

Gene context of Hypophosphatasia

 

Analytical, diagnostic and therapeutic context of Hypophosphatasia

  • Introduction of this mutation into an otherwise normal cDNA by site-directed mutagenesis abolishes the expression of active enzyme, demonstrating that a defect in the L/B/K ALP gene results in hypophosphatasia and that the enzyme is, therefore, essential for normal skeletal mineralization [13].
  • To explore the biochemical basis and extremely variable severity of hypophosphatasia, we used 2-site immunoradiometric assays that quantify in serum either 1) bone TNSALP (iBALP) alone, or 2) both bone and liver TNSALP (iTNSALP) [2].

References

  1. Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Hessle, L., Johnson, K.A., Anderson, H.C., Narisawa, S., Sali, A., Goding, J.W., Terkeltaub, R., Millan, J.L. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  2. Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. Whyte, M.P., Walkenhorst, D.A., Fedde, K.N., Henthorn, P.S., Hill, C.S. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  3. An alternatively spliced surfactant protein B mRNA in normal human lung: disease implication. Lin, Z., Wang, G., Demello, D.E., Floros, J. Biochem. J. (1999) [Pubmed]
  4. Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia. Iqbal, S.J., Brain, A., Reynolds, T.M., Penny, M., Holland, S. Clin. Sci. (1998) [Pubmed]
  5. Chondrocalcinosis secondary to hypomagnesemia in Gitelman's syndrome. Ea, H.K., Blanchard, A., Dougados, M., Roux, C. J. Rheumatol. (2005) [Pubmed]
  6. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. Whyte, M.P., Landt, M., Ryan, L.M., Mulivor, R.A., Henthorn, P.S., Fedde, K.N., Mahuren, J.D., Coburn, S.P. J. Clin. Invest. (1995) [Pubmed]
  7. Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. Whyte, M.P., Mahuren, J.D., Fedde, K.N., Cole, F.S., McCabe, E.R., Coburn, S.P. J. Clin. Invest. (1988) [Pubmed]
  8. Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. Whyte, M.P., Mahuren, J.D., Vrabel, L.A., Coburn, S.P. J. Clin. Invest. (1985) [Pubmed]
  9. The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. Licata, A.A., Radfar, N., Bartter, F.C., Bou, E. Am. J. Med. (1978) [Pubmed]
  10. Elevated plasma 4-pyridoxic acid in renal insufficiency. Coburn, S.P., Reynolds, R.D., Mahuren, J.D., Schaltenbrand, W.E., Wang, Y., Ericson, K.L., Whyte, M.P., Zubovic, Y.M., Ziegler, P.J., Costill, D.L., Fink, W.J., Pearson, D.R., Pauly, T.A., Thampy, K.G., Wortsman, J. Am. J. Clin. Nutr. (2002) [Pubmed]
  11. Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. Caswell, A.M., Whyte, M.P., Russell, R.G. J. Clin. Endocrinol. Metab. (1986) [Pubmed]
  12. Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. Whyte, M.P., Vrabel, L.A., Schwartz, T.D. J. Clin. Endocrinol. Metab. (1983) [Pubmed]
  13. A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Weiss, M.J., Cole, D.E., Ray, K., Whyte, M.P., Lafferty, M.A., Mulivor, R.A., Harris, H. Proc. Natl. Acad. Sci. U.S.A. (1988) [Pubmed]
  14. Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. Fedde, K.N., Michell, M.P., Henthorn, P.S., Whyte, M.P. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  15. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Morava, E., Kárteszi, J., Weisenbach, J., Caliebe, A., Mundlos, S., Méhes, K. Eur. J. Pediatr. (2002) [Pubmed]
  16. Pyridoxine-induced photosensitivity and hypophosphatasia. Kawada, A., Kashima, A., Shiraishi, H., Gomi, H., Matsuo, I., Yasuda, K., Sasaki, G., Sato, S., Orimo, H. Dermatology (Basel) (2000) [Pubmed]
  17. Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. Weiss, M.J., Ray, K., Fallon, M.D., Whyte, M.P., Fedde, K.N., Lafferty, M.A., Mulivor, R.A., Harris, H. Am. J. Hum. Genet. (1989) [Pubmed]
  18. Marrow cell transplantation for infantile hypophosphatasia. Whyte, M.P., Kurtzberg, J., McAlister, W.H., Mumm, S., Podgornik, M.N., Coburn, S.P., Ryan, L.M., Miller, C.R., Gottesman, G.S., Smith, A.K., Douville, J., Waters-Pick, B., Armstrong, R.D., Martin, P.L. J. Bone Miner. Res. (2003) [Pubmed]
  19. Prenatal diagnosis of hypophosphatasia. Kousseff, B.G., Mulivor, R.A. Obstetrics and gynecology. (1981) [Pubmed]
  20. Adult hypophosphatasia and a low level of red blood cell thiamine pyrophosphate. Luong, K.V., Nguyen, L.T. Ann. Nutr. Metab. (2005) [Pubmed]
  21. Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia. Iqbal, S.J., Davies, T., Cole, R., Whitaker, P., Chapman, C. Clin. Chim. Acta (2000) [Pubmed]
  22. A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Greenberg, C.R., Taylor, C.L., Haworth, J.C., Seargeant, L.E., Philipps, S., Triggs-Raine, B., Chodirker, B.N. Genomics (1993) [Pubmed]
  23. Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. Fedde, K.N., Blair, L., Silverstein, J., Coburn, S.P., Ryan, L.M., Weinstein, R.S., Waymire, K., Narisawa, S., Millán, J.L., MacGregor, G.R., Whyte, M.P. J. Bone Miner. Res. (1999) [Pubmed]
  24. Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. Anderson, H.C., Hsu, H.H., Morris, D.C., Fedde, K.N., Whyte, M.P. Am. J. Pathol. (1997) [Pubmed]
 
WikiGenes - Universities