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Items: 1 to 20 of 92

1.

Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.

Vajro P, Zielinska K, Ng BG, Maccarana M, Bengtson P, Poeta M, Mandato C, D'Acunto E, Freeze HH, Eklund EA.

Orphanet J Rare Dis. 2018 Jan 10;13(1):4. doi: 10.1186/s13023-017-0757-3.

2.

MPI depletion enhances O-GlcNAcylation of p53 and suppresses the Warburg effect.

Shtraizent N, DeRossi C, Nayar S, Sachidanandam R, Katz LS, Prince A, Koh AP, Vincek A, Hadas Y, Hoshida Y, Scott DK, Eliyahu E, Freeze HH, Sadler KC, Chu J.

Elife. 2017 Jun 23;6. pii: e22477. doi: 10.7554/eLife.22477.

3.

Dissecting the molecular organization of the translocon-associated protein complex.

Pfeffer S, Dudek J, Schaffer M, Ng BG, Albert S, Plitzko JM, Baumeister W, Zimmermann R, Freeze HH, Engel BD, Förster F.

Nat Commun. 2017 Feb 20;8:14516. doi: 10.1038/ncomms14516.

4.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE.

Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12.

5.

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2.

Chan B, Clasquin M, Smolen GA, Histen G, Powe J, Chen Y, Lin Z, Lu C, Liu Y, Cang Y, Yan Z, Xia Y, Thompson R, Singleton C, Dorsch M, Silverman L, Su SM, Freeze HH, Jin S.

Hum Mol Genet. 2016 Jun 1;25(11):2182-2193. Epub 2016 Apr 5.

6.

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH.

Am J Med Genet A. 2016 Dec;170(12):3165-3171. doi: 10.1002/ajmg.a.37875. Epub 2016 Aug 2.

7.

Perhaps a wee bit of sugar would help.

Freeze HH.

Nat Genet. 2016 Jun 28;48(7):705-7. doi: 10.1038/ng.3600.

8.

Congenital nephrotic syndrome in an infant with ALG1-congenital disorder of glycosylation.

Harshman LA, Ng BG, Freeze HH, Trapane P, Dolezal A, Brophy PD, Brumbaugh JE.

Pediatr Int. 2016 Aug;58(8):785-8. doi: 10.1111/ped.12988. Epub 2016 Jun 21.

9.

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.

Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics, Matthijs G, Freeze HH.

Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21.

10.

trappc11 is required for protein glycosylation in zebrafish and humans.

DeRossi C, Vacaru A, Rafiq R, Cinaroglu A, Imrie D, Nayar S, Baryshnikova A, Milev MP, Stanga D, Kadakia D, Gao N, Chu J, Freeze HH, Lehrman MA, Sacher M, Sadler KC.

Mol Biol Cell. 2016 Apr 15;27(8):1220-34. doi: 10.1091/mbc.E15-08-0557. Epub 2016 Feb 24.

11.

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. 2016 Feb 4;98(2):339-46. doi: 10.1016/j.ajhg.2015.12.007. Epub 2016 Jan 21.

12.

The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation.

Lau E, Feng Y, Claps G, Fukuda MN, Perlina A, Donn D, Jilaveanu L, Kluger H, Freeze HH, Ronai ZA.

Sci Signal. 2015 Dec 8;8(406):ra124. doi: 10.1126/scisignal.aac6479.

13.

Symbol Nomenclature for Graphical Representations of Glycans.

Varki A, Cummings RD, Aebi M, Packer NH, Seeberger PH, Esko JD, Stanley P, Hart G, Darvill A, Kinoshita T, Prestegard JJ, Schnaar RL, Freeze HH, Marth JD, Bertozzi CR, Etzler ME, Frank M, Vliegenthart JF, Lütteke T, Perez S, Bolton E, Rudd P, Paulson J, Kanehisa M, Toukach P, Aoki-Kinoshita KF, Dell A, Narimatsu H, York W, Taniguchi N, Kornfeld S.

Glycobiology. 2015 Dec;25(12):1323-4. doi: 10.1093/glycob/cwv091. No abstract available.

14.

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.

Zhang W, James PM, Ng BG, Li X, Xia B, Rong J, Asif G, Raymond K, Jones MA, Hegde M, Ju T, Cummings RD, Clarkson K, Wood T, Boerkoel CF, Freeze HH, He M.

Clin Chem. 2016 Jan;62(1):208-17. doi: 10.1373/clinchem.2015.243279. Epub 2015 Oct 1.

15.

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG.

Bengtson P, Ng BG, Jaeken J, Matthijs G, Freeze HH, Eklund EA.

J Inherit Metab Dis. 2016 Jan;39(1):107-14. doi: 10.1007/s10545-015-9884-y. Epub 2015 Sep 3.

16.

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, Kok F, Gibson JB, Freeze HH.

Hum Mutat. 2015 Nov;36(11):1048-51. doi: 10.1002/humu.22856. Epub 2015 Aug 27.

17.

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts.

He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, Freeze HH.

Glycobiology. 2015 Aug;25(8):836-44. doi: 10.1093/glycob/cwv024. Epub 2015 Apr 21.

18.

Neurological aspects of human glycosylation disorders.

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

Annu Rev Neurosci. 2015 Jul 8;38:105-25. doi: 10.1146/annurev-neuro-071714-034019. Epub 2015 Apr 2. Review.

19.

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Ng BG, Wolfe LA, Ichikawa M, Markello T, He M, Tifft CJ, Gahl WA, Freeze HH.

Hum Mol Genet. 2015 Jun 1;24(11):3050-7. doi: 10.1093/hmg/ddv057. Epub 2015 Feb 12.

20.

A glycogene mutation map for discovery of diseases of glycosylation.

Hansen L, Lind-Thomsen A, Joshi HJ, Pedersen NB, Have CT, Kong Y, Wang S, Sparso T, Grarup N, Vester-Christensen MB, Schjoldager K, Freeze HH, Hansen T, Pedersen O, Henrissat B, Mandel U, Clausen H, Wandall HH, Bennett EP.

Glycobiology. 2015 Feb;25(2):211-24. doi: 10.1093/glycob/cwu104. Epub 2014 Sep 28.

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