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Items: 1 to 50 of 265

1.

Therapeutic Monosaccharides: Looking Back, Moving Forward.

Sosicka P, Ng BG, Freeze HH.

Biochemistry. 2019 Aug 22. doi: 10.1021/acs.biochem.9b00565. [Epub ahead of print]

PMID:
31398011
2.

Selective inhibition of N-linked glycosylation impairs receptor tyrosine kinase processing.

Klaver E, Zhao P, May M, Flanagan-Steet H, Freeze HH, Gilmore R, Wells L, Contessa J, Steet R.

Dis Model Mech. 2019 Jun 5;12(6). pii: dmm039602. doi: 10.1242/dmm.039602.

3.

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 Sep;42(5):993-997. doi: 10.1002/jimd.12091. Epub 2019 Apr 16.

PMID:
30945312
4.

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Ng BG, Sosicka P, Agadi S, Almannai M, Bacino CA, Barone R, Botto LD, Burton JE, Carlston C, Chung BH, Cohen JS, Coman D, Dipple KM, Dorrani N, Dobyns WB, Elias AF, Epstein L, Gahl WA, Garozzo D, Hammer TB, Haven J, Héron D, Herzog M, Hoganson GE, Hunter JM, Jain M, Juusola J, Lakhani S, Lee H, Lee J, Lewis K, Longo N, Lourenço CM, Mak CCY, McKnight D, Mendelsohn BA, Mignot C, Mirzaa G, Mitchell W, Muhle H, Nelson SF, Olczak M, Palmer CGS, Partikian A, Patterson MC, Pierson TM, Quinonez SC, Regan BM, Ross ME, Guillen Sacoto MJ, Scaglia F, Scheffer IE, Segal D, Singhal NS, Striano P, Sturiale L, Symonds JD, Tang S, Vilain E, Willis M, Wolfe LA, Yang H, Yano S, Powis Z, Suchy SF, Rosenfeld JA, Edmondson AC, Grunewald S, Freeze HH.

Hum Mutat. 2019 Jul;40(7):908-925. doi: 10.1002/humu.23731. Epub 2019 Apr 24.

PMID:
30817854
5.

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation.

Mulkey SB, Ng BG, Vezina GL, Bulas DI, Wolfe LA, Freeze HH, Ferreira CR.

Pediatr Neurol. 2019 May;94:64-69. doi: 10.1016/j.pediatrneurol.2018.12.009. Epub 2018 Dec 24.

PMID:
30770273
6.

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study, Ng BG, Freeze HH, Lefeber DJ, Õunap K.

J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.

PMID:
30746764
7.

Factor VIII and vWF deficiency in STT3A-CDG.

Chang IJ, Byers HM, Ng BG, Merritt JL 2nd, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C.

J Inherit Metab Dis. 2019 Mar;42(2):325-332. doi: 10.1002/jimd.12021. Epub 2019 Jan 30. Erratum in: J Inherit Metab Dis. 2019 May;42(3):578.

PMID:
30701557
8.

ALG11-CDG syndrome: Expanding the phenotype.

Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd.

Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24.

PMID:
30676690
9.

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B; Undiagnosed Diseases Network, Craigen WJ, Bearden DR, Graham BH, Freeze HH.

Am J Hum Genet. 2018 Dec 6;103(6):1030-1037. doi: 10.1016/j.ajhg.2018.10.021. Epub 2018 Nov 29.

10.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH.

Am J Hum Genet. 2018 Oct 4;103(4):553-567. doi: 10.1016/j.ajhg.2018.09.003.

11.

Mannose Alters Gut Microbiome, Prevents Diet-Induced Obesity, and Improves Host Metabolism.

Sharma V, Smolin J, Nayak J, Ayala JE, Scott DA, Peterson SN, Freeze HH.

Cell Rep. 2018 Sep 18;24(12):3087-3098. doi: 10.1016/j.celrep.2018.08.064.

12.

Proteomics reveals signal peptide features determining the client specificity in human TRAP-dependent ER protein import.

Nguyen D, Stutz R, Schorr S, Lang S, Pfeffer S, Freeze HH, Förster F, Helms V, Dudek J, Zimmermann R.

Nat Commun. 2018 Sep 14;9(1):3765. doi: 10.1038/s41467-018-06188-z.

13.

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

Ng BG, Underhill HR, Palm L, Bengtson P, Rozet JM, Gerber S, Munnich A, Zanlonghi X, Stevens CA, Kircher M, Nickerson DA, Buckingham KJ, Josephson KD, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH, Eklund EA.

JIMD Rep. 2019;44:85-92. doi: 10.1007/8904_2018_128. Epub 2018 Aug 17.

14.

The Art of Science Communication-A Novel Approach to Science Communication Training.

Greer S, Alexander H, Baldwin TO, Freeze HH, Thompson M, Hunt G, Snowflack DR.

J Microbiol Biol Educ. 2018 Mar 30;19(1). pii: 19.1.26. doi: 10.1128/jmbe.v19i1.1547. eCollection 2018.

15.

Perspectives on Glycosylation and Its Congenital Disorders.

Ng BG, Freeze HH.

Trends Genet. 2018 Jun;34(6):466-476. doi: 10.1016/j.tig.2018.03.002. Epub 2018 Mar 29. Review.

16.

Glycosyltransferase genes that cause monogenic congenital disorders of glycosylation are distinct from glycosyltransferase genes associated with complex diseases.

Joshi HJ, Hansen L, Narimatsu Y, Freeze HH, Henrissat B, Bennett E, Wandall HH, Clausen H, Schjoldager KT.

Glycobiology. 2018 May 1;28(5):284-294. doi: 10.1093/glycob/cwy015.

17.

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Hall PL, Lam C, Alexander JJ, Asif G, Berry GT, Ferreira C, Freeze HH, Gahl WA, Nickander KK, Sharer JD, Watson CM, Wolfe L, Raymond KM.

Mol Genet Metab. 2018 May;124(1):82-86. doi: 10.1016/j.ymgme.2018.03.002. Epub 2018 Mar 10.

PMID:
29550355
18.

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.

Takeuchi H, Wong D, Schneider M, Freeze HH, Takeuchi M, Berardinelli SJ, Ito A, Lee H, Nelson SF, Haltiwanger RS.

Glycobiology. 2018 May 1;28(5):276-283. doi: 10.1093/glycob/cwy014.

19.

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.

20.

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.

Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH.

Am J Hum Genet. 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009.

21.

Other Classes of Eukaryotic Glycans.

Haltiwanger RS, Wells L, Freeze HH, Stanley P.

In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Darvill AG, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 13.
2017.

22.

Glycosylation Precursors.

Freeze HH, Hart GW, Schnaar RL.

In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Darvill AG, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 5.
2017.

23.

Glycans in Acquired Human Diseases.

Freeze HH, Kinoshita T, Varki A.

In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Darvill AG, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 46.
2017.

24.

Glycans in Systemic Physiology.

Freeze HH, Baum L, Varki A.

In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Darvill AG, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 41.
2017.

25.

Genetic Disorders of Glycan Degradation.

Freeze HH, Kinoshita T, Schnaar RL.

In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Darvill AG, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 44.
2017.

26.

Genetic Disorders of Glycosylation.

Freeze HH, Schachter H, Kinoshita T.

In: Varki A, Cummings RD, Esko JD, Stanley P, Hart GW, Aebi M, Darvill AG, Kinoshita T, Packer NH, Prestegard JH, Schnaar RL, Seeberger PH, editors. Essentials of Glycobiology [Internet]. 3rd edition. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory Press; 2015-2017. Chapter 45.
2017.

27.

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.

Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Ensslen M, Freeze HH.

Am J Med Genet A. 2017 Nov;173(11):2906-2911. doi: 10.1002/ajmg.a.38412. Epub 2017 Aug 29.

28.

Shake up conferences.

Silberberg SD, Crawford DC, Finkelstein R, Koroshetz WJ, Blank RD, Freeze HH, Garrison HH, Seger YR.

Nature. 2017 Aug 9;548(7666):153-154. doi: 10.1038/548153a. No abstract available.

PMID:
28796229
29.

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.

30.

A "Glyconutrient Sham" and the Jenner Glycobiology and Medicine Symposium.

Schnaar RL, Freeze HH.

Glycobiology. 2017 May 1;27(5):383-384. doi: 10.1093/glycob/cwx024. No abstract available.

PMID:
28384366
31.

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.

32.

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.

33.

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.

34.

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.

35.

Perhaps a wee bit of sugar would help.

Freeze HH.

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

36.

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.

37.

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.

38.

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.

39.

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.

40.

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.

41.

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.

42.

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.

43.

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.

44.

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.

45.

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.

46.

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.

47.

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.

48.

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.

49.

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy.

Caglayan AO, Comu S, Baranoski JF, Parman Y, Kaymakçalan H, Akgumus GT, Caglar C, Dolen D, Erson-Omay EZ, Harmanci AS, Mishra-Gorur K, Freeze HH, Yasuno K, Bilguvar K, Gunel M.

Eur J Med Genet. 2015 Jan;58(1):39-43. doi: 10.1016/j.ejmg.2014.08.008. Epub 2014 Sep 9.

50.

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL).

Ng BG, Freeze HH.

J Inherit Metab Dis. 2015 Jan;38(1):171-8. doi: 10.1007/s10545-014-9752-1. Epub 2014 Aug 28. Review.

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