1 | ALG12, ALG3, CDG1A, CDG1B, CDG1D, CDG1G, CDG1J, CDG2B, DPAGT1, MOGS, MPI, PMM2
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| Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
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| Kane MS, Davids M, Adams C, Wolfe LA, Cheung HW, Gropman A, Huang Y; NISC Comparative Sequencing Program, Ng BG, Freeze HH, Adams DR, Gahl WA, Boerkoel CF.
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| Am J Hum Genet 98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.
2016
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2 | CDG1A, PMM2
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| Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia.
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| Vega AI, Pérez-Cerdá C, Desviat LR, Matthijs G, Ugarte M, Pérez B.
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| Hum Mutat um Mutat. 2009 Feb 20. [Epub ahead of print]
2009
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3 | CDG1A, PMM2
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| Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.
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| Richard E, Vega AI, Pérez B, Roche C, Velázquez R, Ugarte M, Pérez-Cerdá C.
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| Biochem Biophys Res Commun 379(2):267-71. Epub 2008 Dec 25.
2009
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4 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
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| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
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| Haeuptle MA, Hennet T.
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| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
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5 | PGM2, PGM2L1, PMM1, PMM2
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| Mammalian phosphomannomutase PMM1 is the brain IMP-sensitive glucose-1,6-bisphosphatase.
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| Veiga-da-Cunha M, Vleugels W, Maliekal P, Matthijs G, Van Schaftingen E.
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| J Biol Chem 283(49):33988-93. Epub 2008 Oct 16.
2008
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6 | PMM2, CDG1A
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| Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
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| Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G.
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| Mol Genet Metab 90(4):408-13. Epub 2007 Feb 16. 2007
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7 | PMM2, CDG1A
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| PMM2 intronic branch-site mutations in CDG-Ia.
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| Vuillaumier-Barrot S, Le Bizec C, De Lonlay P, Madinier-Chappat N, Barnier A, Dupre T, Durand G, Seta N.
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| Mol Genet Metab 87(4):337-40. Epub 2005 Dec 20. 2006
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8 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG2A, CDG2B, CDG2E, CDG2G, CDG2H, COG1, COG7, COG8, DPAGT1, DPM1, MGAT2, MOGS, MPDU1, MPI, PMM2
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| Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects.
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| Leroy JG.
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| Pediatr Res 60(6):643-56. Epub 2006 Oct 25. 2006
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9 | CDG1A, PMM2
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| Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology.
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| Aronica E, van Kempen AA, van der Heide M, Poll-The BT, van Slooten HJ, Troost D, Rozemuller-Kwakkel JM.
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| Acta Neuropathol (Berl) 109(4):433-42. Epub 2005 Feb 16. 2005
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10 | CDG1A, PMM2
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| Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.
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| Coman D, Klingberg S, Morris D, McGill J, Mercer H.
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| J Inherit Metab Dis 28(6):1189-90. 2005
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11 | PMM1, PMM2
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| Tissue distribution of the murine phosphomannomutases Pmm1 and Pmm2 during brain development.
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| Cromphout K, Keldermans L, Snellinx A, Collet JF, Grünewald S, De Geest N, Sciot R, Vanschaftingen E, Jaeken J, Matthijs G, Hartmann D.
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| Eur J Neurosci 22(4):991-6.
2005
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12 | CDG1A, PMM2
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| Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia.
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| Ono H, Sakura N, Yamashita K, Yuasa I, Ohno K.
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| Brain Dev 25(7):525-8. Erratum in: Brain Dev. 2004 Aug;26(5):347. 2003
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13 | CDG1A, PMM2
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| High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
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| Grunewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G.
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| Am J Hum Genet 68(2):347-54. 2001
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14 | CDG1A, PMM2
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| Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia french patients.
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| Vuillaumier-Barrot S, Hetet G, Barnier A, Dupre T, Cuer M, de Lonlay P, Cormier-Daire V, Durand G, Grandchamp B, Seta N.
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| J Med Genet 37(8):579-80. 2000
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15 | CDG1A, PMM2
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| Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I.
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| Mizugishi K, et al.
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| Brain Dev 21(4):223-8. 1999
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16 | CDG1A, PMM2
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| Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2.
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| Pirard M, et al.
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| FEBS Lett 452(3):319-22. 1999
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17 | CDG1A, PMM2
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| Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia).
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| Matthijs G, et al.
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| Mol Genet Metab 68(2):220-226. No abstract available 1999
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18 | CDG1A, PMM2
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| Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli.
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| [No authors listed]
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| Eur J Hum Genet 7(8):884-8 1999
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19 | PMM1, PMM2
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| Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes.
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| Pirard M, Achouri Y, Collet JF, Schollen E, Matthijs G, Van Schaftingen E.
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| Biochem J 339 ( Pt 1):201-7.
1999
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20 | PMM1, PMM2, PMM2P1
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| Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMMEpsi : the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene.
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| Schollen E, Pardon E, Heykants L, Renard J, Doggett NA, Callen DF, Cassiman JJ, Matthijs G.
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| Hum Mol Genet 7(2):157-64. 1998
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21 | CDG1A, PMM2
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| Lack of homozygotes for the most frequent disease allele in carbohydrate-deficiency glycoprotein syndrome type 1A.
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| Matthijs G, et al.
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| Am J Hum Genet 62 : 542-550. 1998
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22 | CDG1A, PMM2
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| Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.
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| Kjaergaard S, Skovby F, Schwartz M.
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| Eur J Hum Genet 6(4):331-6. 1998
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23 | CDG1A, PMM2
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| Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families.
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| Bjursell C, et al.
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| Eur J Hum Genet 6 : 603-611. 1998
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24 | CDG1A, PMM1, PMM2
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| Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).
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| Matthijs G, et al.
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| Nat Genet 16 : 88-92. 1997
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