메뉴 건너뛰기




Volumn 10, Issue 10, 2015, Pages

Heterodimerization of two pathological mutants enhances the activity of human phosphomannomutase2

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE 1,6 BISPHOSPHATE; HETERODIMER; MUTANT PROTEIN; PHOMANNOMUTASE2; PHOSPHOMANNOMUTASE; PROTEIN F119L; PROTEIN R141H; UNCLASSIFIED DRUG; GLUCOSE 6 PHOSPHATE; GLUCOSE-1,6-BISPHOSPHATE; MUTASE; PHOSPHOMANNOMUTASE 2, HUMAN;

EID: 84949465374     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0139882     Document Type: Article
Times cited : (23)

References (26)
  • 1
    • 0033119763 scopus 로고    scopus 로고
    • Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes
    • 10085245
    • Pirard M, Achouri Y, Collet JF, Schollen E, Matthijs G, Van Schaftingen E. Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes. Biochem J. 1999; 339 (Pt 1):201-7. PMID: 10085245.
    • (1999) Biochem J. , vol.339 , pp. 201-207
    • Pirard, M.1    Achouri, Y.2    Collet, J.F.3    Schollen, E.4    Matthijs, G.5    Van Schaftingen, E.6
  • 2
    • 34548232365 scopus 로고    scopus 로고
    • Inference of macromolecular assemblies from crystalline state
    • 17681537
    • Krissinel E, Henrick K. Inference of macromolecular assemblies from crystalline state. J Mol Biol. 2007; 372(3):774-97. PMID: 17681537.
    • (2007) J Mol Biol. , vol.372 , Issue.3 , pp. 774-797
    • Krissinel, E.1    Henrick, K.2
  • 3
    • 84908398480 scopus 로고    scopus 로고
    • Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation
    • 24498599
    • Andreotti G, Pedone E, Giordano A, Cubellis MV. Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation. Mol Genet Genomic Med. 2013; 1(1):32-44. doi: 10.1002/mgg3.3 PMID: 24498599
    • (2013) Mol Genet Genomic Med. , vol.1 , Issue.1 , pp. 32-44
    • Andreotti, G.1    Pedone, E.2    Giordano, A.3    Cubellis, M.V.4
  • 4
    • 84949469153 scopus 로고    scopus 로고
    • 1954227
    • HGMD. HGMD: http://www.hgmd.cf.ac.uk/ac/index.php. 2011. 1954227.
    • (2011) HGMD
    • HGMD1
  • 5
    • 0034082327 scopus 로고    scopus 로고
    • Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)
    • 10854097
    • Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet. 2000; 8(5):367-71. PMID: 10854097.
    • (2000) Eur J Hum Genet. , vol.8 , Issue.5 , pp. 367-371
    • Schollen, E.1    Kjaergaard, S.2    Legius, E.3    Schwartz, M.4    Matthijs, G.5
  • 6
    • 84918564491 scopus 로고    scopus 로고
    • Conformational response to ligand binding in phosphomannomutase2: Insights into inborn glycosylation disorder
    • 25324542 Epub 2014/10/18. [pii]. PubMed Central PMCID: PMC4263888
    • Andreotti G, Cabeza de Vaca I, Poziello A, Monti MC, Guallar V, Cubellis MV. Conformational Response to Ligand Binding in Phosphomannomutase2: INSIGHTS INTO INBORN GLYCOSYLATION DISORDER. J Biol Chem. 2014; 289(50):34900-10. Epub 2014/10/18. doi: 10.1074/jbc.M114.586362 M114.586362 [pii]. PMID: 25324542; PubMed Central PMCID: PMC4263888.
    • (2014) J Biol Chem. , vol.289 , Issue.50 , pp. 34900-34910
    • Andreotti, G.1    Cabeza De-Vaca, I.2    Poziello, A.3    Monti, M.C.4    Guallar, V.5    Cubellis, M.V.6
  • 7
    • 0031981557 scopus 로고    scopus 로고
    • Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A
    • 9497260
    • Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J. Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet. 1998; 62(3):542-50. PMID: 9497260.
    • (1998) Am J Hum Genet. , vol.62 , Issue.3 , pp. 542-550
    • Matthijs, G.1    Schollen, E.2    Van Schaftingen, E.3    Cassiman, J.J.4    Jaeken, J.5
  • 8
    • 0035173378 scopus 로고    scopus 로고
    • DbSNP: The NCBI database of genetic variation
    • 11125122 Epub 2000/01/11. PubMed Central PMCID: PMC29783
    • Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001; 29(1):308-11. Epub 2000/01/11. PMID: 11125122; PubMed Central PMCID: PMC29783.
    • (2001) Nucleic Acids Res. , vol.29 , Issue.1 , pp. 308-311
    • Sherry, S.T.1    Ward, M.H.2    Kholodov, M.3    Baker, J.4    Phan, L.5    Smigielski, E.M.6
  • 9
    • 0032966369 scopus 로고    scopus 로고
    • Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2
    • 10386614 Epub 1999/07/01. S0014-5793(99)00673-0 [pii]
    • Pirard M, Matthijs G, Heykants L, Schollen E, Grunewald S, Jaeken J, et al. Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS letters. 1999; 452(3):319-22. Epub 1999/07/01. S0014-5793(99)00673-0 [pii]. PMID: 10386614.
    • (1999) FEBS Letters , vol.452 , Issue.3 , pp. 319-322
    • Pirard, M.1    Matthijs, G.2    Heykants, L.3    Schollen, E.4    Grunewald, S.5    Jaeken, J.6
  • 10
    • 24344432503 scopus 로고    scopus 로고
    • A new insight into PMM2 mutations in the French population
    • 15844218 Epub 2005/04/22
    • Le Bizec C, Vuillaumier-Barrot S, Barnier A, Dupre T, Durand G, Seta N. A new insight into PMM2 mutations in the French population. Hum Mutat. 2005; 25(5):504-5. Epub 2005/04/22. doi: 10.1002/humu.9336 PMID: 15844218.
    • (2005) Hum Mutat. , vol.25 , Issue.5 , pp. 504-505
    • Le Bizec, C.1    Vuillaumier-Barrot, S.2    Barnier, A.3    Dupre, T.4    Durand, G.5    Seta, N.6
  • 11
    • 0033389547 scopus 로고    scopus 로고
    • Carbohydrate-deficient glycoprotein syndrome type 1A: Expression and characterisation of wild type and mutant PMM2 in E. Coli
    • 10602363 Epub 1999/12/22
    • Kjaergaard S, Skovby F, Schwartz M. Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli. Eur J Hum Genet. 1999; 7(8):884-8. Epub 1999/12/22. doi: 10.1038/sj.ejhg.5200398 PMID: 10602363.
    • (1999) Eur J Hum Genet , vol.7 , Issue.8 , pp. 884-888
    • Kjaergaard, S.1    Skovby, F.2    Schwartz, M.3
  • 12
    • 79961172239 scopus 로고    scopus 로고
    • Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations
    • 21541725 Epub 2011/05/05
    • Vega AI, Perez-Cerda C, Abia D, Gamez A, Briones P, Artuch R, et al. Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J Inherit Metab Dis. 2011; 34(4):929-39. Epub 2011/05/05. doi: 10.1007/s10545-011-9328-2 PMID: 21541725.
    • (2011) J Inherit Metab Dis. , vol.34 , Issue.4 , pp. 929-939
    • Vega, A.I.1    Perez-Cerda, C.2    Abia, D.3    Gamez, A.4    Briones, P.5    Artuch, R.6
  • 13
    • 84938973394 scopus 로고    scopus 로고
    • The effects of PMM2-CDG-causing mutations on the folding, activity, and stability of the PMM2 protein
    • 26014514 Epub 2015/05/28
    • Yuste-Checa P, Gamez A, Brasil S, Desviat LR, Ugarte M, Perez-Cerda C, et al. The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein. Hum Mutat. 2015; 36(9):851-60. Epub 2015/05/28. doi: 10.1002/humu.22817 PMID: 26014514.
    • (2015) Hum Mutat. , vol.36 , Issue.9 , pp. 851-860
    • Yuste-Checa, P.1    Gamez, A.2    Brasil, S.3    Desviat, L.R.4    Ugarte, M.5    Perez-Cerda, C.6
  • 14
    • 0031005847 scopus 로고    scopus 로고
    • Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
    • 9140401
    • Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet. 1997; 16(1):88-92. PMID: 9140401.
    • (1997) Nat Genet. , vol.16 , Issue.1 , pp. 88-92
    • Matthijs, G.1    Schollen, E.2    Pardon, E.3    Veiga-Da-Cunha, M.4    Jaeken, J.5    Cassiman, J.J.6
  • 15
    • 0034283813 scopus 로고    scopus 로고
    • Congenital disorders of glycosylation
    • 10973055
    • Matthijs G. Congenital disorders of glycosylation. Trends in biochemical sciences. 2000; 25(9):428. PMID: 10973055.
    • (2000) Trends in Biochemical Sciences , vol.25 , Issue.9 , pp. 428
    • Matthijs, G.1
  • 16
    • 0031854537 scopus 로고    scopus 로고
    • Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1
    • 9781039 Epub 1998/10/22
    • Kjaergaard S, Skovby F, Schwartz M. Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet. 1998; 6 (4):331-6. Epub 1998/10/22. doi: 10.1038/sj.ejhg.5200194 PMID: 9781039.
    • (1998) Eur J Hum Genet. , vol.6 , Issue.4 , pp. 331-336
    • Kjaergaard, S.1    Skovby, F.2    Schwartz, M.3
  • 17
    • 0032406371 scopus 로고    scopus 로고
    • Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families
    • 9887379 Epub 1999/01/15
    • Bjursell C, Wahlstrom J, Berg K, Stibler H, Kristiansson B, Matthijs G, et al. Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Eur J Hum Genet. 1998; 6(6):603-11. Epub 1999/01/15. doi: 10.1038/sj.ejhg. 5200234 PMID: 9887379.
    • (1998) Eur J Hum Genet. , vol.6 , Issue.6 , pp. 603-611
    • Bjursell, C.1    Wahlstrom, J.2    Berg, K.3    Stibler, H.4    Kristiansson, B.5    Matthijs, G.6
  • 18
    • 0031567574 scopus 로고    scopus 로고
    • Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells
    • 9271215
    • Pirard M, Collet JF, Matthijs G, Van Schaftingen E. Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells. FEBS letters. 1997; 411(2-3):251-4. PMID: 9271215.
    • (1997) FEBS Letters , vol.411 , Issue.2-3 , pp. 251-254
    • Pirard, M.1    Collet, J.F.2    Matthijs, G.3    Van Schaftingen, E.4
  • 19
    • 0029585865 scopus 로고
    • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
    • 8549746 Epub 1995/12/27. 0014-5793(95) 01357-1 [pii]
    • Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS letters. 1995; 377(3):318-20. Epub 1995/12/27. 0014-5793(95) 01357-1 [pii] doi: 10.1016/0014-5793(95)01357-1 PMID: 8549746.
    • (1995) FEBS Letters , vol.377 , Issue.3 , pp. 318-320
    • Van Schaftingen, E.1    Jaeken, J.2
  • 20
    • 84904480125 scopus 로고    scopus 로고
    • FRET based quantification and screening technology platform for the interactions of leukocyte function-associated antigen-1 (LFA-1) with intercellular adhesion molecule-1 (ICAM-1)
    • 25032811 Epub 2014/07/18. [pii]. PubMed Central PMCID: PMC4102529
    • Chakraborty S, Nunez D, Hu SY, Domingo MP, Pardo J, Karmenyan A, et al. FRET based quantification and screening technology platform for the interactions of leukocyte function-associated antigen-1 (LFA-1) with intercellular adhesion molecule-1 (ICAM-1). PloS one. 2014; 9(7):e102572. Epub 2014/07/18. doi: 10.1371/journal.pone.0102572 PONE-D-14-15911 [pii]. PMID: 25032811; PubMed Central PMCID: PMC4102529.
    • (2014) PloS One , vol.9 , Issue.7 , pp. e102572
    • Chakraborty, S.1    Nunez, D.2    Hu, S.Y.3    Domingo, M.P.4    Pardo, J.5    Karmenyan, A.6
  • 21
    • 84866774623 scopus 로고    scopus 로고
    • Protein interaction affinity determination by quantitative FRET technology
    • 22711490 Epub 2012/06/20
    • Song Y, Rodgers VG, Schultz JS, Liao J. Protein interaction affinity determination by quantitative FRET technology. Biotechnol Bioeng. 2012; 109(11):2875-83. Epub 2012/06/20. doi: 10.1002/bit.24564 PMID: 22711490.
    • (2012) Biotechnol Bioeng , vol.109 , Issue.11 , pp. 2875-2883
    • Song, Y.1    Rodgers, V.G.2    Schultz, J.S.3    Liao, J.4
  • 22
    • 84940956600 scopus 로고    scopus 로고
    • Looking for protein stabilizing drugs with thermal shift assay
    • 25845367 Epub 2015/04/08
    • Andreotti G, Monticelli M, Cubellis MV. Looking for protein stabilizing drugs with thermal shift assay. Drug Test Anal. 2015. Epub 2015/04/08. doi: 10.1002/dta.1798 PMID: 25845367.
    • (2015) Drug Test Anal.
    • Andreotti, G.1    Monticelli, M.2    Cubellis, M.V.3
  • 23
    • 0026590951 scopus 로고
    • Limited proteolysis as a probe of conformational changes in aspartate aminotransferase from Sulfolobus solfataricus
    • 1551394
    • Arnone MI, Birolo L, Giamberini M, Cubellis MV, Nitti G, Sannia G, et al. Limited proteolysis as a probe of conformational changes in aspartate aminotransferase from Sulfolobus solfataricus. Eur J Biochem. 1992; 204(3):1183-9. PMID: 1551394.
    • (1992) Eur J Biochem , vol.204 , Issue.3 , pp. 1183-1189
    • Arnone, M.I.1    Birolo, L.2    Giamberini, M.3    Cubellis, M.V.4    Nitti, G.5    Sannia, G.6
  • 24
    • 84869875424 scopus 로고    scopus 로고
    • Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: Report from two phase 2 clinical studies
    • 23176611
    • Germain DP, Giugliani R, Hughes DA, Mehta A, Nicholls K, Barisoni L, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on alpha-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies. Orphanet J Rare Dis. 2012; 7:91. PMID: 23176611. doi: 10.1186/1750-1172-7-91
    • (2012) Orphanet J Rare Dis. , vol.7 , pp. 91
    • Germain, D.P.1    Giugliani, R.2    Hughes, D.A.3    Mehta, A.4    Nicholls, K.5    Barisoni, L.6
  • 25
    • 84871994423 scopus 로고    scopus 로고
    • Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease
    • 23085429 Epub 2012/10/23. [pii]
    • Zimran A, Altarescu G, Elstein D. Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol Dis. 2013; 50(2):134-7. Epub 2012/10/23. doi: 10.1016/j.bcmd. 2012.09.006 S1079-9796(12)00184-2 [pii]. PMID: 23085429.
    • (2013) Blood Cells Mol Dis. , vol.50 , Issue.2 , pp. 134-137
    • Zimran, A.1    Altarescu, G.2    Elstein, D.3
  • 26
    • 84878381985 scopus 로고    scopus 로고
    • Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
    • 23683771 Epub 2013/05/21. [pii]
    • Kuter DJ, Mehta A, Hollak CE, Giraldo P, Hughes D, Belmatoug N, et al. Miglustat therapy in type 1 Gaucher disease: clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells Mol Dis. 2013; 51(2):116-24. Epub 2013/05/21. doi: 10.1016/j.bcmd.2013.04.005 S1079-9796(13) 00085-5 [pii]. PMID: 23683771.
    • (2013) Blood Cells Mol Dis. , vol.51 , Issue.2 , pp. 116-124
    • Kuter, D.J.1    Mehta, A.2    Hollak, C.E.3    Giraldo, P.4    Hughes, D.5    Belmatoug, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.