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