208 related articles for article (PubMed ID: 21168482)
1. Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
Ishida Y; Komaru K; Oda K
Biochim Biophys Acta; 2011 Mar; 1812(3):326-32. PubMed ID: 21168482
[TBL] [Abstract][Full Text] [Related]
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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
4. Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia.
Nasu M; Ito M; Ishida Y; Numa N; Komaru K; Nomura S; Oda K
FEBS J; 2006 Dec; 273(24):5612-24. PubMed ID: 17212778
[TBL] [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
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
7. 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.
Fukushi-Irié M; Ito M; Amaya Y; Amizuka N; Ozawa H; Omura S; Ikehara Y; Oda K
Biochem J; 2000 Jun; 348 Pt 3(Pt 3):633-42. PubMed ID: 10839996
[TBL] [Abstract][Full Text] [Related]
8. Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.
Shibata H; Fukushi M; Igarashi A; Misumi Y; Ikehara Y; Ohashi Y; Oda K
J Biochem; 1998 May; 123(5):968-77. PubMed ID: 9562633
[TBL] [Abstract][Full Text] [Related]
9. 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.
Numa N; Ishida Y; Nasu M; Sohda M; Misumi Y; Noda T; Oda K
FEBS J; 2008 Jun; 275(11):2727-37. PubMed ID: 18422967
[TBL] [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
[TBL] [Abstract][Full Text] [Related]
11. Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia.
Komaru K; Satou Y; Al-Shawafi HA; Numa-Kinjoh N; Sohda M; Oda K
FEBS J; 2016 Mar; 283(6):1168-79. PubMed ID: 26797772
[TBL] [Abstract][Full Text] [Related]
12. Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia.
Watanabe H; Takinami H; Goseki-Sone M; Orimo H; Hamatani R; Ishikawa I
Biochem Biophys Res Commun; 2005 Feb; 327(1):124-9. PubMed ID: 15629439
[TBL] [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; 361(Pt 3):473-80. PubMed ID: 11802776
[TBL] [Abstract][Full Text] [Related]
14. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme.
Müller HL; Yamazaki M; Michigami T; Kageyama T; Schönau E; Schneider P; Ozono K
J Clin Endocrinol Metab; 2000 Feb; 85(2):743-7. PubMed ID: 10690885
[TBL] [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; 246(3):613-8. PubMed ID: 9618260
[TBL] [Abstract][Full Text] [Related]
16. Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
Yang H; Wang L; Geng J; Yu T; Yao RE; Shen Y; Yin L; Ying D; Huang R; Zhou Y; Chen H; Liu L; Mo X; Shen Y; Fu Q; Yu Y
Cell Physiol Biochem; 2013; 32(3):635-44. PubMed ID: 24022022
[TBL] [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; 7(6):331-5. PubMed ID: 11834095
[TBL] [Abstract][Full Text] [Related]
18. [Tissue-nonspecific alkaline phosphatase and hypophosphatasia].
Oda K; Kinjoh NN; Sohda M; Komaru K; Amizuka N
Clin Calcium; 2014 Feb; 24(2):233-9. PubMed ID: 24473356
[TBL] [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; 272(7):1704-17. PubMed ID: 15794757
[TBL] [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; 134(1):63-70. PubMed ID: 12944372
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]