These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
2. Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia. Numa-Kinjoh N, Komaru K, Ishida Y, Sohda M, Oda K. Mol Genet Metab; 2015 Aug; 115(4):180-5. PubMed ID: 25982064 [Abstract] [Full Text] [Related]
3. A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia. Makita S, Al-Shawafi HA, Sultana S, Sohda M, Nomura S, Oda K. FEBS J; 2012 Dec; 279(23):4327-37. PubMed ID: 23039266 [Abstract] [Full Text] [Related]
5. 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. Satou Y, Al-Shawafi HA, Sultana S, Makita S, Sohda M, Oda K. Biochim Biophys Acta; 2012 Apr; 1822(4):581-8. PubMed ID: 22266140 [Abstract] [Full Text] [Related]
6. An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia. Sultana S, Al-Shawafi HA, Makita S, Sohda M, Amizuka N, Takagi R, Oda K. Mol Genet Metab; 2013 Jul; 109(3):282-8. PubMed ID: 23688511 [Abstract] [Full Text] [Related]
10. Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia. Al-Shawafi HA, Komaru K, Oda K. Mol Cell Biochem; 2017 Mar; 427(1-2):169-176. PubMed ID: 28000043 [Abstract] [Full Text] [Related]
13. Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia. Ito M, Amizuka N, Ozawa H, Oda K. Biochem J; 2002 Feb 01; 361(Pt 3):473-80. PubMed ID: 11802776 [Abstract] [Full Text] [Related]
15. Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia. Fukushi M, Amizuka N, Hoshi K, Ozawa H, Kumagai H, Omura S, Misumi Y, Ikehara Y, Oda K. Biochem Biophys Res Commun; 1998 May 29; 246(3):613-8. PubMed ID: 9618260 [Abstract] [Full Text] [Related]
17. A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. Watanabe H, Hashimoto-Uoshima M, Goseki-Sone M, Orimo H, Ishikawa I. Oral Dis; 2001 Nov 29; 7(6):331-5. PubMed ID: 11834095 [Abstract] [Full Text] [Related]
19. 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. Komaru K, Ishida Y, Amaya Y, Goseki-Sone M, Orimo H, Oda K. FEBS J; 2005 Apr 29; 272(7):1704-17. PubMed ID: 15794757 [Abstract] [Full Text] [Related]
20. Tissue-nonspecific alkaline phosphatase with an Asp(289)-->Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation. Ishida Y, Komaru K, Ito M, Amaya Y, Kohno S, Oda K. J Biochem; 2003 Jul 29; 134(1):63-70. PubMed ID: 12944372 [Abstract] [Full Text] [Related] Page: [Next] [New Search]