Freeze HH - Search Results

1

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. Klaver E, et al. Among authors: freeze hh. Dis Model Mech. 2019 Jun 5;12(6):dmm039602. doi: 10.1242/dmm.039602. Dis Model Mech. 2019. PMID: 31101650 Free PMC article.

2

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.

Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH. Wu X, et al. Among authors: freeze hh. Hum Mutat. 2003 Aug;22(2):144-50. doi: 10.1002/humu.10239. Hum Mutat. 2003. PMID: 12872255

3

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.

Wu X, Steet RA, Bohorov O, Bakker J, Newell J, Krieger M, Spaapen L, Kornfeld S, Freeze HH. Wu X, et al. Among authors: freeze hh. Nat Med. 2004 May;10(5):518-23. doi: 10.1038/nm1041. Epub 2004 Apr 25. Nat Med. 2004. PMID: 15107842

4

Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells.

Contessa JN, Bhojani MS, Freeze HH, Rehemtulla A, Lawrence TS. Contessa JN, et al. Among authors: freeze hh. Cancer Res. 2008 May 15;68(10):3803-9. doi: 10.1158/0008-5472.CAN-07-6389. Cancer Res. 2008. PMID: 18483264 Free PMC article.

5

Molecular imaging of N-linked glycosylation suggests glycan biosynthesis is a novel target for cancer therapy.

Contessa JN, Bhojani MS, Freeze HH, Ross BD, Rehemtulla A, Lawrence TS. Contessa JN, et al. Among authors: freeze hh. Clin Cancer Res. 2010 Jun 15;16(12):3205-14. doi: 10.1158/1078-0432.CCR-09-3331. Epub 2010 Apr 22. Clin Cancer Res. 2010. PMID: 20413434 Free PMC article.

6

A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation.

Chu J, Mir A, Gao N, Rosa S, Monson C, Sharma V, Steet R, Freeze HH, Lehrman MA, Sadler KC. Chu J, et al. Among authors: freeze hh. Dis Model Mech. 2013 Jan;6(1):95-105. doi: 10.1242/dmm.010116. Epub 2012 Aug 16. Dis Model Mech. 2013. PMID: 22899857 Free PMC article.

7

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R. Cline A, et al. Among authors: freeze hh. Mol Biol Cell. 2012 Nov;23(21):4175-87. doi: 10.1091/mbc.E12-05-0411. Epub 2012 Sep 5. Mol Biol Cell. 2012. PMID: 22956764 Free PMC article.

8

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

Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Shrimal S, et al. Among authors: freeze hh. Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10. Hum Mol Genet. 2013. PMID: 23842455 Free PMC article.

9

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. Chang IJ, et al. Among authors: freeze hh. J Inherit Metab Dis. 2019 Mar;42(2):325-332. doi: 10.1002/jimd.12021. Epub 2019 Jan 30. J Inherit Metab Dis. 2019. PMID: 30701557 Free PMC article.

10

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.

Ng BG, Sosicka P, Fenaille F, Harroche A, Vuillaumier-Barrot S, Porterfield M, Xia ZJ, Wagner S, Bamshad MJ, Vergnes-Boiteux MC, Cholet S, Dalton S, Dell A, Dupré T, Fiore M, Haslam SM, Huguenin Y, Kumagai T, Kulik M, McGoogan K, Michot C, Nickerson DA, Pascreau T, Borgel D, Raymond K, Warad D; University of Washington Center for Mendelian Genomics (UW-CMG); Flanagan-Steet H, Steet R, Tiemeyer M, Seta N, Bruneel A, Freeze HH. Ng BG, et al. Among authors: freeze hh. Am J Hum Genet. 2021 Jun 3;108(6):1040-1052. doi: 10.1016/j.ajhg.2021.04.013. Epub 2021 May 7. Am J Hum Genet. 2021. PMID: 33964207 Free PMC article.

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