User menu

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

Bibliographic reference Matthijs, G. ; Schollen, E. ; Bjursell, C ; Erlandson, A ; Freeze, H ; et. al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). In: Human Mutation, Vol. 16, no. 5, p. 386-394 (2000)
Permanent URL
  1. Aravind L, Galperin Michael Y, Koonin Eugene V, The catalytic domain of the P-type ATPase has the haloacid dehalogenase fold, 10.1016/s0968-0004(98)01189-x
  2. Bjursell Cecilia, Stibler Helena, Wahlström Jan, Kristiansson Bengt, Skovby Flemming, Strömme Petter, Blennow Gösta, Martinsson Tommy, Fine Mapping of the Gene for Carbohydrate-Deficient Glycoprotein Syndrome, Type I (CDG1): Linkage Disequilibrium and Founder Effect in Scandinavian Families, 10.1006/geno.1996.4488
  3. Bjursell Cecilia, Wahlström Jan, Berg Kerstin, Stibler Helena, Kristiansson Bengt, Matthijs Gert, Martinsson Tommy, Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families, 10.1038/sj.ejhg.5200234
  4. Bjursell Cecilia, Erlandson Anna, Nordling Margareta, Nilsson Staffan, Wahlstr�m Jan, Stibler Helena, Kristiansson Bengt, Martinsson Tommy, PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families, 10.1002/1098-1004(200011)16:5<395::aid-humu3>;2-t
  5. Crosby Andrew, Jeffery Steve, Homfray Tessa, Taylor Rohan, Patton Michael, Prenatal Diagnosis and the Subsequent Mutation Analysis in a Family with Carbohydrate-Deficient Glycoprotein Type I Syndrome: Growing Evidence to Support Founder Effects within CDG1 Populations, 10.1089/109065799316644
  6. Fletcher J. M., Matthijs G., Jaeken J., Van Schaftingen E., Nelson P.V., 10.1023/a:1005660004047
  7. Imtiaz F., Worthington V., Champion M., Beesley C., Charlwood J., Clayton P., Keir G., Mian N., Winchester B., 10.1023/a:1005669900330
  8. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, Eeckels R, Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90, 10.1203/00006450-198002000-00117
  9. Jaeken J, Matthijs G, Barone R, Carchon H, Carbohydrate deficient glycoprotein (CDG) syndrome type I., 10.1136/jmg.34.1.73
  10. Jaeken, New York: McGraw-Hill, in press (2000)
  11. Kepes, J Biol Chem, 263, 9155 (1988)
  12. Kjaergaard Susanne, Skovby Flemming, Schwartz Marianne, Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1, 10.1038/sj.ejhg.5200194
  13. Kjaergaard Susanne, Skovby Flemming, Schwartz Marianne, Carbohydrate-deficient glycoprotein syndrome type 1A: expression and characterisation of wild type and mutant PMM2 in E. coli, 10.1038/sj.ejhg.5200398
  14. Kondo I, Mizugishi K, Yoneda Y, Hashimoto T, Kuwajima K, Yuasa I, Shigemoto K, Kuroda Y, Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1, 10.1034/j.1399-0004.1999.550109.x
  15. Krasnewich, Am J Hum Genet, 65, 424 (1999)
  16. Kristiansson, Lakartidningen, 95, 5742 (1998)
  17. Matthijs Gert, Schollen Els, Pirard Michel, Budarf Marcia L., Van Schaftingen Emile, Cassiman Jean-Jacques, PMM (PMM1), the Human Homologue ofSEC53or Yeast Phosphomannomutase, Is Localized on Chromosome 22q13, 10.1006/geno.1996.4536
  18. Matthijs Gert, Schollen Els, Pardon Els, Veiga-Da-Cunha Maria, Jaeken Jaak, Cassiman Jean-Jacques, Schaftingen Emile Van, Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome), 10.1038/ng0597-88
  19. Matthijs Gert, Schollen Els, Van Schaftingen Emile, Cassiman Jean-Jacques, Jaeken Jaak, Lack of Homozygotes for the Most Frequent Disease Allele in Carbohydrate-Deficient Glycoprotein Syndrome Type 1A, 10.1086/301763
  20. Mizugishi Kiyomi, Yamanaka Keiko, Kuwajima Katsuko, Yuasa Isao, Shigemoto Kazuhiro, Kondo Ikuko, Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I, 10.1016/s0387-7604(99)00004-2
  21. 10.1023/a:1017249723165
  22. Glycobiology, 10(6) (2000)
  23. PIRARD Michel, ACHOURI Younes, COLLET Jean-François, SCHOLLEN Els, MATTHIJS Gert, SCHAFTINGEN Emile VAN, Kinetic properties and tissular distribution of mammalian phosphomannomutase isozymes, 10.1042/bj3390201
  24. Pirard Michel, Matthijs Gert, Heykants Leen, Schollen Els, Grünewald Stephanie, Jaeken Jaak, van Schaftingen Emile, Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2, 10.1016/s0014-5793(99)00673-0
  25. Schollen E, Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene, 10.1093/hmg/7.2.157
  26. Schollen Els, Kjaergaard Susanne, Legius Eric, Schwartz Marianne, Matthijs Gert, Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia), 10.1038/sj.ejhg.5200470
  27. Uller, Am J Hum Genet, 66, 410 (1999)
  28. Vuillaumier-Barrot Sandrine, Barnier Anne, Cuer Maryvonne, Durand Genevi�ve, Grandchamp Bernard, Seta Nathalie, Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping, 10.1002/(sici)1098-1004(199912)14:6<543::aid-humu17>;2-s
  29. Vuillaumier-Barrot Sandrine, Bizec Christiane Le, Durand Genevi�ve, Grandchamp Bernard, Seta Nathalie, Identification of a IVS4 -58delATG polymorphism in the human phosphomannomutase 2 (PMM2) gene, 10.1002/(sici)1098-1004(200005)15:5<486::aid-humu24>;2-v
  30. Vuillaumier-Barrot S., Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients, 10.1136/jmg.37.8.579