TMEM165 deficiency: Postnatal changes in glycosylation

JIMD Reports

Volumn 26, Issue , 2016, Pages 21-29

  Schulte Althoff, S ^a   Gruneberg M ^a   Reunert, J ^a   Park, J H ^a   Rust, S ^a   Muhlhausen C ^b   Wada, Y ^c   Santer, R ^b   Marquardt, T ^a  

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

CDG; Congenital disorders of glycosylation; Glycosylation; Postnatal; TMEM165

Indexed keywords

EID: 85010356962     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_455     Document Type: Chapter

References (32)

1. Apweiler R, Hermjakob H, Sharon N (1999) On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database. Biochim Biophys Acta 1473(1):4–8. doi:10.1016/S0304-4165(99)00165-8
2. Bjellqvist B, Pasquali C, Ravier F, Sanchez JC, Hochstrasser D (1993) A nonlinear wide-range immobilized pH gradient for two-dimensional electrophoresis and its definition in a relevant pH scale. Electrophoresis 14(12):1357–1365
3. Chung MC-M (1984) Structure and function of transferrin. Biochem Educ 12:146–154. doi:10.1016/0307-4412(84)90118-3
4. Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C (1993) Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341(8850):956. doi:10.1016/0140-6736(93)91244-G
5. de Jong G, van Eijk HG (1988) Microheterogeneity of human serum transferrin: a biological phenomenon studied by isoelectric focusing in immobilized pH gradients. Electrophoresis 9 (9):589–598
6. de Jong G, van Noort WL, Feelders RA, de Jeu-Jaspars CM, van Eijk HG (1992) Adaptation of transferrin protein and glycan synthesis. Clin Chim Acta 212(1–2):27–45
7. Demaegd D, Foulquier F, Colinet A-S, Gremillon L, Legrand D, Mariot P et al (2013) Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells. Proc Natl Acad Sci U S A 110(17):6859–6864
8. Denecke J, Kranz C, Von Kleist-Retzow JC et al (2005) Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins. Pediatr Res 58:248–253. doi:10.1203/01.PDR.0000169963.94378. B6
9. Edwards M, McKenzie F, O’Callaghan S et al (2006) Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. Prenat Diagn 26:985–988. doi:10.1002/pd.1543
10. Exome Variant Server, NHLBI GO Exome sequencing project (ESP), Seattle, WA. http://evs.gs.washington.edu/EVS/. Accessed Jan 2015
11. Foulquier F, Amyere M, Jaeken J et al (2012) TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet 91(1):15–26
12. Funke S, Gardeitchik T, Kouwenberg D et al (2013) Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A 161A:578–584
13. Gitlin D, Kumate J, Urrusti J, Morales C (1964) The selectivity of the human placenta in the transfer of plasma proteins from mother to fetus. J Clin Invest 43(10):1938–1951
14. Granovsky M, Fode C, Warren CE et al (1995) GlcNAc-transferase V and core 2 GlcNAc-transferase expression in the developing mouse embryo. Glycobiology 5:797–806
15. Helenius A, Aebi M (2004) Roles of N-linked glycans in the endoplasmic reticulum. Annu Rev Biochem 73:1019–1049
16. Hitzig WH (1961) Das Bluteiweissbild beim gesunden Saugling. Spezifische Proteinbestimmungen mit besonderer Berucksichti-gung immunochemischer Methoden. Helv Paediatr Acta 16:46–81
17. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: time for a change. Biochim Biophys Acta 1792(9):825–826. doi:10.1016/j.bbadis.2009.08.005
18. Kranz C, Denecke J, Lehle L et al (2004) Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet 74(3):545–551
19. Léticée N, Bessières-Grattagliano B, Dupré T et al (2010) Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis? Mol Genet Metab 101 (2–3):253–257. doi:10.1016/j.ymgme.2010.06.009
20. Matthijs G, Schollen E, Van Schaftingen E (2004) The prenatal diagnosis of congenital disorders of glycosylation (CDG). Prenat Diagn 24:114–116. doi:10.1002/pd.815
21. Medvedova L, Knopp J, Farkas R (2003) Steroid regulation of terminal protein glycosyltransferase genes: molecular and functional homologies within sialyltransferase and fucosyltransferase families. Endocr Regul 37:203–210
22. Melartin L, Hirvonen T, Kaarsalo E, Toivanen P (1966) Group-specific components and transferrins in human fetal sera. Scand J Haematol 3:8
23. Niehues R, Hasilik M, Alton G et al (1998) Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 101(7):1414–1420
24. Park JH, Zuhlsdorf A, Wada Y et al (2014) The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation. Clin Chim Acta 436:135–139. doi:10.1016/j. cca.2014.05.011
25. Rosnoblet C, Legrand D, Demaegd D et al (2013) Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. Hum Mol Genet 22(14):2914–2928
26. Rozen S, Skaletsky HJ (1998) Primer3. Code available at http://www-genome.wi.mit.edu/genome_software/other/primer3.html
27. Stibler H, Skovby F (1994) Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. Pediatr Neurol 11(1):71
28. The UniProt Consortium (2014) Activities at the universal protein resource (UniProt). Nucleic Acids Res 42:D191–D198
29. Uehara K, Thelu J (2001) Stage-and tissue-specific expression of a beta-1,4-galactosyltransferase in the embryonic epidermis. In Vitro Cell Dev Biol Anim 37:613–617
30. Van de Kamp JM, Lefeber DJ, Ruijter GJG et al (2007) Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. J Med Genet 44(4):277–280. doi:10.1136/jmg.2006.044735
31. Wada Y, Kadoya M, Okamoto N (2012) Mass spectrometry of apolipoprotein C-III, a simple analytical method for mucin-type O-glycosylation and its application to an autosomal recessive cutis laxa type-2 (ARCL2) patient. Glycobiology 22 (8):1140–1144. doi:10.1093/glycob/cws086
32. Zhou D, Chen C, Jiang S, Shen Z, Chi Z, Gu J (1998) Expression of 1,4-galactosyltransferase in the development of mouse brain. Biochim Biophys Acta 1425:204–208