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Items: 14

1.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.

Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

J Inherit Metab Dis. 2019 Apr 3. doi: 10.1002/jimd.12091. [Epub ahead of print]

PMID:
30945312
2.

Quantitative Profiling of N-linked Glycosylation Machinery in Yeast Saccharomyces cerevisiae.

Poljak K, Selevsek N, Ngwa E, Grossmann J, Losfeld ME, Aebi M.

Mol Cell Proteomics. 2018 Jan;17(1):18-30. doi: 10.1074/mcp.RA117.000096. Epub 2017 Oct 9.

3.

Influence of protein/glycan interaction on site-specific glycan heterogeneity.

Losfeld ME, Scibona E, Lin CW, Villiger TK, Gauss R, Morbidelli M, Aebi M.

FASEB J. 2017 Oct;31(10):4623-4635. doi: 10.1096/fj.201700403R. Epub 2017 Jul 5.

PMID:
28679530
4.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforêt P, Petit F, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.

N Engl J Med. 2014 Feb 6;370(6):533-42. doi: 10.1056/NEJMoa1206605.

5.

The metabolic origins of mannose in glycoproteins.

Ichikawa M, Scott DA, Losfeld ME, Freeze HH.

J Biol Chem. 2014 Mar 7;289(10):6751-61. doi: 10.1074/jbc.M113.544064. Epub 2014 Jan 9.

6.

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex.

Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

Hum Mol Genet. 2014 Mar 15;23(6):1602-5. doi: 10.1093/hmg/ddt550. Epub 2013 Nov 11.

7.

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH.

Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10.

8.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012.

9.

A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy.

Losfeld ME, Soncin F, Ng BG, Singec I, Freeze HH.

FASEB J. 2012 Oct;26(10):4210-7. doi: 10.1096/fj.12-211656. Epub 2012 Jun 12.

10.

Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells.

He P, Ng BG, Losfeld ME, Zhu W, Freeze HH.

J Biol Chem. 2012 May 25;287(22):18210-7. doi: 10.1074/jbc.M112.355677. Epub 2012 Apr 11.

11.

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR.

Am J Hum Genet. 2012 Feb 10;90(2):363-8. doi: 10.1016/j.ajhg.2011.12.024. Epub 2012 Feb 2.

12.

N-Glycosylation influences the structure and self-association abilities of recombinant nucleolin.

Losfeld ME, Leroy A, Coddeville B, Carpentier M, Mazurier J, Legrand D.

FEBS J. 2011 Jul;278(14):2552-64. doi: 10.1111/j.1742-4658.2011.08180.x. Epub 2011 Jun 3.

13.

The cell surface expressed nucleolin is a glycoprotein that triggers calcium entry into mammalian cells.

Losfeld ME, Khoury DE, Mariot P, Carpentier M, Krust B, Briand JP, Mazurier J, Hovanessian AG, Legrand D.

Exp Cell Res. 2009 Jan 15;315(2):357-69. doi: 10.1016/j.yexcr.2008.10.039. Epub 2008 Nov 6.

PMID:
19026635
14.

Modulation of HSP70 GlcNAc-directed lectin activity by glucose availability and utilization.

Guinez C, Losfeld ME, Cacan R, Michalski JC, Lefebvre T.

Glycobiology. 2006 Jan;16(1):22-8. Epub 2005 Sep 21.

PMID:
16177265

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