| P2093 | author name string | Kimimitsu Oda | |
| | Miwa Sohda | |
| | Sara Sultana | |
| | Shuichi Nomura | |
| | Hiba A Al-Shawafi | |
| | Saori Makita | |
| P2860 | cites work | Hypophosphatasia | Q21202964 |
| | Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity | Q27628998 |
| | Marrow cell transplantation for infantile hypophosphatasia | Q28188482 |
| | Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts | Q28303466 |
| | Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles | Q33461898 |
| | Enzyme replacement therapy for murine hypophosphatasia | Q34008808 |
| | Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone | Q34060286 |
| | Structural evidence of functional divergence in human alkaline phosphatases | Q34153784 |
| | Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia | Q34628935 |
| | Dose response of bone-targeted enzyme replacement for murine hypophosphatasia | Q35053446 |
| | Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia | Q35129242 |
| | Prolonged survival and phenotypic correction of Akp2−/− hypophosphatasia mice by lentiviral gene therapy | Q35229937 |
| | Successful gene therapy in utero for lethal murine hypophosphatasia | Q35892058 |
| | Enzyme replacement prevents enamel defects in hypophosphatasia mice | Q36092163 |
| | Physiological role of alkaline phosphatase explored in hypophosphatasia | Q37730918 |
| | Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia | Q39408457 |
| | Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia | Q40185045 |
| | A general method for rapid purification of soluble versions of glycosylphosphatidylinositol-anchored proteins expressed in insect cells: an application for human tissue-nonspecific alkaline phosphatase | Q40926136 |
| | Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia | Q41848613 |
| | 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 | Q41853551 |
| | Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. | Q42275955 |
| | Kinetic characterization of hypophosphatasia mutations with physiological substrates | Q44089759 |
| | Tissue-nonspecific alkaline phosphatase with an Asp(289)-->Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation | Q44565897 |
| | Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient | Q45855295 |
| | Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. | Q46006259 |
| | Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization | Q46289092 |
| | 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 | Q46407779 |
| | Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain | Q46636205 |
| | Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia | Q48655330 |
| | A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. | Q50642812 |
| | Enzyme-replacement therapy in life-threatening hypophosphatasia. | Q51806696 |
| | Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia. | Q54134721 |
| | Mammalian Alkaline Phosphatases | Q57349374 |
| P433 | issue | 23 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | hypophosphatasia | Q1313510 |
| P304 | page(s) | 4327-4337 | |
| P577 | publication date | 2012-10-30 | |
| P1433 | published in | FEBS Journal | Q1388041 |
| P1476 | title | A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia | |
| P478 | volume | 279 | |