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Items: 1 to 20 of 21

1.

A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity.

Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Héron D, Dorison N, Mignot C, Seta N, Chantret I, Dupré T, Moore SE.

Orphanet J Rare Dis. 2016 Jun 24;11(1):84. doi: 10.1186/s13023-016-0468-1.

2.

TURAN and EVAN mediate pollen tube reception in Arabidopsis Synergids through protein glycosylation.

Lindner H, Kessler SA, Müller LM, Shimosato-Asano H, Boisson-Dernier A, Grossniklaus U.

PLoS Biol. 2015 Apr 28;13(4):e1002139. doi: 10.1371/journal.pbio.1002139.

3.

Genetic defects in dolichol metabolism.

Buczkowska A, Swiezewska E, Lefeber DJ.

J Inherit Metab Dis. 2015 Jan;38(1):157-69. doi: 10.1007/s10545-014-9760-1. Review.

4.

Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function.

Baycin-Hizal D, Gottschalk A, Jacobson E, Mai S, Wolozny D, Zhang H, Krag SS, Betenbaugh MJ.

Biochem Biophys Res Commun. 2014 Oct 17;453(2):243-53. doi: 10.1016/j.bbrc.2014.06.067. Review.

5.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Freeze HH, Chong JX, Bamshad MJ, Ng BG.

Am J Hum Genet. 2014 Feb 6;94(2):161-75. doi: 10.1016/j.ajhg.2013.10.024. Review.

6.

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation.

Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY.

Mol Genet Metab. 2013 Dec;110(4):484-9. doi: 10.1016/j.ymgme.2013.09.016.

7.

Plant polyisoprenoids and control of cholesterol level.

Pronin AV, Danilov LL, Narovlyansky AN, Sanin AV.

Arch Immunol Ther Exp (Warsz). 2014 Feb;62(1):31-9. doi: 10.1007/s00005-013-0253-y. Review.

8.

Congenital disorders of glycosylation: other causes of ichthyosis.

Jaeken J, Rymen D, Matthijs G.

Eur J Hum Genet. 2014 Apr;22(4):444. doi: 10.1038/ejhg.2013.168. No abstract available.

9.

Congenital protein hypoglycosylation diseases.

Sparks SE.

Appl Clin Genet. 2012 Jul 5;5:43-54. doi: 10.2147/TACG.S18673.

10.

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

Wolfe LA, Morava E, He M, Vockley J, Gibson KM.

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):322-8. doi: 10.1002/ajmg.c.31345. Review.

11.

Insights into complexity of congenital disorders of glycosylation.

Goreta SS, Dabelic S, Dumic J.

Biochem Med (Zagreb). 2012;22(2):156-70. Review.

12.

Neurology of inherited glycosylation disorders.

Freeze HH, Eklund EA, Ng BG, Patterson MC.

Lancet Neurol. 2012 May;11(5):453-66. doi: 10.1016/S1474-4422(12)70040-6.

13.

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG).

Kapusta L, Zucker N, Frenckel G, Medalion B, Ben Gal T, Birk E, Mandel H, Nasser N, Morgenstern S, Zuckermann A, Lefeber DJ, de Brouwer A, Wevers RA, Lorber A, Morava E.

Heart Fail Rev. 2013 Mar;18(2):187-96. doi: 10.1007/s10741-012-9302-6.

14.

Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.

Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA.

PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427.

15.

At the membrane frontier: a prospectus on the remarkable evolutionary conservation of polyprenols and polyprenyl-phosphates.

Hartley MD, Imperiali B.

Arch Biochem Biophys. 2012 Jan 15;517(2):83-97. doi: 10.1016/j.abb.2011.10.018. Review.

16.

A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation.

Jones C, Denecke J, Sträter R, Stölting T, Schunicht Y, Zeuschner D, Klumperman J, Lefeber DJ, Spelten O, Zarbock A, Kelm S, Strenge K, Haslam SM, Lühn K, Stahl D, Gentile L, Schreiter T, Hilgard P, Beck-Sickinger AG, Marquardt T, Wild MK.

Am J Pathol. 2011 Oct;179(4):1969-77. doi: 10.1016/j.ajpath.2011.06.012.

17.

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases.

Cantagrel V, Lefeber DJ.

J Inherit Metab Dis. 2011 Aug;34(4):859-67. doi: 10.1007/s10545-011-9301-0. Review.

18.

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report.

Al-Owain M, Mohamed S, Kaya N, Zagal A, Matthijs G, Jaeken J.

Orphanet J Rare Dis. 2010 Apr 16;5:7. doi: 10.1186/1750-1172-5-7.

19.

Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA.

Am J Hum Genet. 2009 Jul;85(1):76-86. doi: 10.1016/j.ajhg.2009.06.006.

20.

Glycosylation diseases: quo vadis?

Schachter H, Freeze HH.

Biochim Biophys Acta. 2009 Sep;1792(9):925-30. doi: 10.1016/j.bbadis.2008.11.002. Review.

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