« Previous
Next »
Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1
, Pages 113-127
, March 2008
Hypophosphatasia
References
- . Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocrine Reviews. 1994;15:439–461
- Mild autosomal dominant hypophosphatasia: in utero presentation in two families. American Journal of Medical Genetics. 1999;86:410–415
- . Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. American Journal of Medical Genetics. 1999;86:434–438
- Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenatal Diagnosis. 2007;27:222–227
- Wenkert D, McAlister WH, Coburn S, et al. Non-lethal hypophosphatasia interpreted as severe skeletal dysplasia in utero.In : Fifth international alkaline phosphatase symposium: ‘understanding alkaline phosphatase function – pathophysiology and treatment of hypophosphatasia and other AP-related diseases’. Huningue, France; 2007.
- . Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. The Journal of Pediatrics. 1986;108:82–88
- . Hypophosphatasia. Amsterdam: Academic Press; 2003;
- Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. Medicine (Baltimore). 1984;63:12–24
- Hypophosphatasia. Review of 24 cases. Pediatric Radiology. 1976;5:103–117
- Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. Medicine (Baltimore). 1979;58:329–347
- . Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. Oral Surgery Oral Medicine Oral Pathology. 1973;35:631–640
- . Phosphate incorporation into alkaline phosphatase of E. coli. Proceedings of the National Academy of Sciences of the United States of America. 1961;47:1996–2005
- . Reaction mechanism of alkaline phosphatase based on crystal structures. Two-metal ion catalysis. Journal of Molecular Biology. 1991;218:449–464
- . Tetrameric alkaline phosphatase from human liver is converted to dimers by phosphatidylinositol phospholipase C. FEBS Letters. 1987;212:289–291
- . Present status and future trends of human alkaline phosphatases. Progress in Clinical and Biological Research. 1984;166:3–14
- . Alkaline phosphatase as a reporter of cancerous transformation. Clinica Chimica Acta. 1992;209:123–129
- Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. American Journal of Human Genetics. 1990;46:286–292
- Correlations of genotype and phenotype in hypophosphatasia. Human Molecular Genetics. 1999;8:1039–1046
- Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity. The Journal of Biological Chemistry. 2001;276:9158–9165
- . Structural evidence of functional divergence in human alkaline phosphatases. The Journal of Biological Chemistry. 2002;277:49808–49814
- Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization. The Journal of Biological Chemistry. 2001;276:31171–31178
- Mammalian alkaline phosphatase catalysis requires active site structure stabilization via the N-terminal amino acid microenvironment. Biochemistry. 2006;45:9756–9766
- Residues determining the binding specificity of uncompetitive inhibitors to tissue-nonspecific alkaline phosphatase. Journal of Bone and Mineral Research. 2004;19:1862–1872
- . Modifications in a flexible surface loop modulate the isozyme-specific properties of mammalian alkaline phosphatases. The Journal of Biological Chemistry. 1993;268:25409–25416
- . Mammalian alkaline phosphatases are allosteric enzymes. The Journal of Biological Chemistry. 1997;272:22781–22787
- . Site-directed mutagenesis and epitope-mapped monoclonal antibodies define a catalytically important conformational difference between human placental and germ cell alkaline phosphatase. European Journal of Biochemistry. 1991;202:605–616
- . Alkaline phosphatase binds to collagen: a hypothesis on the mechanism of extravesicular mineralization in epiphyseal cartilage. Experientia. 1984;40:836–837
- . Collagen-binding proteins in collagenase-released matrix vesicles from cartilage. Interaction between matrix vesicle proteins and different types of collagen. The Journal of Biological Chemistry. 1991;266:1195–1203
- . Mammalian alkaline phosphatases: from biology to applications in medicine and biotechnology. Weinheim: Wiley-VCH Verlag GmbH; 2006;
- . Stereospecific inhibition of alkaline phosphatase by l-tetramisole prevents in vitro cartilage calcification. Laboratory Investigation. 1980;43:489–494
- . Can biological calcification occur in the presence of pyrophosphate?. Archives of Biochemistry and Biophysics. 1984;231:1–8
- . Phosphodiesterase activity is a novel property of alkaline phosphatase from osseous plate. Biochemical Journal. 1994;301(Pt 2):517–522
- Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization. Proceedings of the National Academy of Sciences of the United States of America. 2002;99:9445–9449
- . Role of the mouse ank gene in control of tissue calcification and arthritis. Science. 2000;289:265–270
- Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: an integrated model of the pathogenesis of mineralization disorders. American Journal of Pathology. 2004;164:1199–1209
- Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. Journal of Inherited Metabolic Disease. 2002;25:35–40
- Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T
>
C, p.M226T; c.1112C
>
T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. Bone. 2007;40:1655–1661 - . Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. Journal of Child Neurology. 2002;17:222–224
- . Hypophosphatasia. New York: McGraw-Hill; 2001;
- . Pyridoxine-dependent seizures: a clinical and biochemical conundrum. Biochimica et Biophysica Acta. 2003;1647:36–41
- Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nature Genetics. 1995;11:45–51
- Hyperphosphatasia with neurologic deficit: a pyridoxine-responsive seizure disorder?. Pediatric Neurology. 2006;34:303–307
- . Areal and subcellular localization of the ubiquitous alkaline phosphatase in the primate cerebral cortex: evidence for a role in neurotransmission. Cerebral Cortex. 2004;14:595–609
- . Postnatal development of alkaline phosphatase activity correlates with the maturation of neurotransmission in the cerebral cortex. The Journal of Comparative Neurology. 2005;486:179–196
- Kinetic characterization of hypophosphatasia mutations with physiological substrates. Journal of Bone and Mineral Research. 2002;17:1383–1391
- Structure of the human liver/bone/kidney alkaline phosphatase gene. The Journal of Biological Chemistry. 1988;263:12002–12010
- . Isolation and characterization of the mouse liver/bone/kidney-type alkaline phosphatase gene. Biochemical Journal. 1990;268:641–648
- . Characterization of a 5′-flanking region of the human liver/bone/kidney alkaline phosphatase gene: two kinds of mRNA from a single gene. Biochemical and Biophysical Research. 1990;168:993–1000
- . Characterization of a second promoter for the mouse liver/bone/kidney-type alkaline phosphatase gene: cell and tissue specific expression. Biochemical and Biophysical Research. 1991;179:1352–1360
- A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. Proceedings of the National Academy of Sciences of the United States of America. 1988;85:7666–7669
- Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments. Genetic Testing. 2006;10:252–257
- Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. The Journal of Clinical Endocrinology and Metabolism. 2005;90:2436–2439
- Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. European Journal of Pediatrics. 2005;164:277–282
- . Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. European Journal of Human Genetics. 2002;10:666–668
- A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. Genomics. 1993;17:215–217
- Mumm S, Wenkert D, Zhang X et al. Hypophosphatasia: the c.1133A
>
T, D378V transversion is the most common American TNSALP mutation. In: Fifth international alkaline phosphatase symposium: ‘understanding alkaline phosphatase function – pathophysiology and treatment of hypophosphatasia and other AP-related diseases’. Huningue, France; 2007. - . Homozygosity for TNSALP mutation 1348c > T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. The Journal of Pediatrics. 2006;148:753–758
- . Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations. Molecular Genetics and Metabolism. 2005;84:273–277
- A molecular approach to dominance in hypophosphatasia. Human Genetics. 2001;109:99–108
- Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. Human Mutation. 2001;18:83–84
- Fifteen new mutations (-195C
>
T, L-12X, 298-2A
>
G, T117N, A159T, R229S, 997
+
2T
>
A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. Human Mutation. 2000;15:293 - Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. Journal of Bone and Mineral Research. 2001;16:2313–2319
- Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. The Journal of Clinical Endocrinology and Metabolism. 1998;83:3936–3942
- Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia. Journal of Biochemistry (Tokyo). 1998;123:968–977
- . A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. Journal of Human Genetics. 1998;43:160–164
- Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia. Biochemical and Biophysical Research. 1998;246:613–618
- Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. Journal of Bone and Mineral Research. 2002;17:1945–1948
- Tissue-nonspecific alkaline phosphatase with an Asp(289)-->Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation. Journal of Biochemistry (Tokyo). 2003;134:63–70
- . Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia. Biochemical Journal. 2002;361(Pt 3):473–480
- Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia. Biochemical and Biophysical Research. 2005;327:124–129
- Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. Biochemical Journal. 2000;348(Pt 3):633–642
- Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation. The FEBS Journal. 2005;272:1704–1717
- Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia. The FEBS Journal. 2006;273:5612–5624
- . Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. Transactions of the Association of American Physicians. 1982;95:253–263
- . Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. Journal of Craniofacial Genetics and Developmental Biology. 1983;3:213–234
- . Adult hypophosphatasia without apparent skeletal disease: ‘ondotohypophosphatasia’ in four heterozygote members of a family. Klinische Wochenschrift. 1984;62:371
- Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proceedings of the National Academy of Sciences of the United States of America. 1992;89:9924–9928
- Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. The Journal of Clinical Endocrinology and Metabolism. 2000;85:743–747
- Characterization of a family with dominant hypophosphatasia. European Journal of Oral Sciences. 2000;108:189–194
- Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene. Journal of Medical Genetics. 2003;40:605–609
- . Phosphorylethanolamine and hypophosphatasia. Danish Medical Bulletin. 1968;15:(Suppl. 2):1–112
- Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. Journal of Nippon Medical School. 2007;74:65–69
- . Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. Prenatal Diagnosis. 1995;15:1001–1006
- First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. Prenatal Diagnosis. 1996;16:559–563
- Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. Prenatal Diagnosis. 1999;19:755–757
- . Hypophosphatasia. The American Journal of Medicine. 1957;22:730–746
- Wenkert D, Podgornik MN, Coburn SP et al. Dietary phosphate restriction therapy for hypophosphatasia: preliminary observations. In: Fifth international alkaline phosphatase symposium: ‘understanding alkaline phosphatase function – pathophysiology and treatment of hypophosphatasia and other AP-related diseases’. Huningue, France; 2007.
- . Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. Bone. 1999;25:603–607
- Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet Journal of Rare Diseases. 2006;1:24
- . Adult hypophosphatasia treated with teriparatide. The Journal of Clinical Endocrinology and Metabolism. 2007;92:1203–1208
- Marrow cell transplantation for infantile hypophosphatasia. Journal of Bone and Mineral Research. 2003;18:624–636
- Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. The Journal of Clinical Endocrinology and Metabolism. 2007;92:2923–2930
- . Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Human Mutation. 1998;11:1–3
- Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res. 2007 Dec 17;
PII: S1521-6942(07)00126-X
doi: 10.1016/j.berh.2007.11.003
© 2007 Elsevier Ltd. All rights reserved.
« Previous
Next »
Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1
, Pages 113-127
, March 2008
