LIST OF SELECTED PUBLICATIONS

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collapse Year : 2015 ‎(4)
2015
Hansen L., Lind-Thomsen A., Joshi H.J., Pedersen N.B., Have C.T., Kong Y., Wang S., Sparso T., Grarup N., Vester-Christensen M.B., Schjoldager K., Freeze H.H., Hansen T., Pedersen O., Henrissat B., Mandel U., Clausen H., Wandall H.H., Bennett E.P. A glycogene mutation map for discovery of diseases of glycosylation. Glycobiology. 2015;25(2):211-224.
http://glycob.oxfordjournals.org/content/early/2014/09/28/glycob.cwu104
2015
Ng B.G., Wolfe L.A., Ichikawa M., Markello T., He M., Tifft C.J., Gahl W.A., Freeze H.H. Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis, and decrease glycosylation precursors. Hum Mol Genet. 2015.
http://hmg.oxfordjournals.org/content/early/2015/03/04/hmg.ddv057.long
2015
Ng B.G., Freeze H.H. Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL). J Inherit Metab Dis. 2015;38(1):171-178.
http://link.springer.com/article/10.1007%2Fs10545-014-9752-1#
2015
Caglayan A.O., Comu S., Baranoski J.F., Parman Y., Kaymakcalan H., Akgumus G.T., Caglar C., Dolen D., Erson-Omay E.Z., Harmanci A.S., Mishra-Gorur K., Freeze H.H., Yasuno K., Bilguvar K., Gunel M. NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy. Eur J Med Genet. 2015;58(1):39-43.
http://www.sciencedirect.com/science/article/pii/S1769721214001682
collapse Year : 2014 ‎(7)
2014
Cottam NP, Wilson KM, Ng BG, Korner C, Freeze HH, Ungar D. Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay. Traffic. 2014;15(1):12-21. PMCID: PMC3892563.
http://www.ncbi.nlm.nih.gov/pubmed/24102787
2014
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 G, Freeze HH. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Hum Mol Genet. 2014;23(6):1602-5. PMCID: PMC Journal - In Process.
http://www.ncbi.nlm.nih.gov/pubmed/24218363
2014
Ichikawa M, Scott DA, Losfeld ME, Freeze HH. The metabolic origins of mannose in glycoproteins. J Biol Chem. 2014:Jan 9 [Epub ahead of print] PubMed PMID: 24407290.
http://www.ncbi.nlm.nih.gov/pubmed/24407290
2014
Sharma V, Nayak J, Derossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH. Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. FASEB J. 2014.
http://www.ncbi.nlm.nih.gov/pubmed/24421398
2014
He P, Srikrishna G, Freeze HH. An N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response. Glycobiology. 2014.
http://www.ncbi.nlm.nih.gov/pubmed/24474243
2014
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, Laforet P, Petit F, Aumaitre 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. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014;370(6):533-42.
http://www.ncbi.nlm.nih.gov/pubmed/24499211
2014
Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways. Am J Hum Genet. 2014;94(2):161-75.
http://www.ncbi.nlm.nih.gov/pubmed/24507773
collapse Year : 2013 ‎(9)
2013
Chu J, Mir A, Gao N, Rosa S, Monson C, Sharma V, Steet R, Freeze HH, Lehrman MA, Sadler KC. A zebrafish model of congenital disorders of glycosylation with phosphomannose isomerase deficiency reveals an early opportunity for corrective mannose supplementation. Dis Model Mech. 2013;6(1):95-105. PMCID: PMC3529342.
http://www.ncbi.nlm.nih.gov/pubmed/22899857
2013
Freeze HH. Understanding human glycosylation disorders: biochemistry leads the charge. J Biol Chem. 2013;288(10):6936-45. PMCID: PMC3591604.
http://www.ncbi.nlm.nih.gov/pubmed/23329837
2013
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 G, Freeze HH. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet. 2013;92(4):632-6. PMCID: PMC3617373.
http://www.ncbi.nlm.nih.gov/pubmed/23561849
2013
Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. Hum Mol Genet. 2013;22(22):4638-45. PMCID: PMC3888133.
http://www.ncbi.nlm.nih.gov/pubmed/23842455
2013
Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab. 2013;110(3):345-51. PMCID: PMC3800268.
http://www.ncbi.nlm.nih.gov/pubmed/23856421
2013
Laufman O, Freeze HH, Hong W, Lev S. Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes. Traffic. 2013;14(10):1065-77. PMCID: PMCPMC Journal - In Process.
http://www.ncbi.nlm.nih.gov/pubmed/23865579
2013
Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013;110(4):484-9. PMCID: PMC3909743.
http://www.ncbi.nlm.nih.gov/pubmed/24144945
2013
Harada Y, Nakajima K, Masahara-Negishi Y, Freeze HH, Angata T, Taniguchi N, Suzuki T. Metabolically programmed quality control system for dolichol-linked oligosaccharides. Proc Natl Acad Sci U S A. 2013;110(48):19366-71. PMCID: PMC3845098.
http://www.ncbi.nlm.nih.gov/pubmed/24218558
2013
Sun L, Zhao Y, Zhou K, Freeze HH, Zhang YW, Xu H. Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation. Mol Brain. 2013;6:52. PMCID: PMC3907076.
http://www.ncbi.nlm.nih.gov/pubmed/24305089
collapse Year : 2012 ‎(7)
2012
Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR. DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. Am J Hum Genet. 2012;90(2):363-8. PMCID: PMC3276676.
http://www.ncbi.nlm.nih.gov/pubmed/22305527
2012
Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. Am J Hum Genet. 2012;90(4):685-8. PMCID: PMC3322218.
http://www.ncbi.nlm.nih.gov/pubmed/22444671
2012
He P, Ng BG, Losfeld ME, Zhu W, Freeze HH. Identification of intercellular cell adhesion molecule 1 (ICAM-1) as a hypoglycosylation marker in congenital disorders of glycosylation cells. J Biol Chem. 2012;287(22):18210-7. PMCID: PMC3365753.
http://www.ncbi.nlm.nih.gov/pubmed/22496445
2012
Freeze HH, Eklund EA, Ng BG, Patterson MC. Neurology of inherited glycosylation disorders. Lancet Neurol. 2012;11(5):453-66. PMCID: PMC3625645.
http://www.ncbi.nlm.nih.gov/pubmed/22516080
2012
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet. 2012;91(1):15-26. PMCID: PMC3397274.
http://www.ncbi.nlm.nih.gov/pubmed/22683087
2012
Losfeld ME, Soncin F, Ng BG, Singec I, Freeze HH. A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J. 2012;26(10):4210-7. PMCID: PMC3448770.
http://www.ncbi.nlm.nih.gov/pubmed/22691915
2012
Cline A, Gao N, Flanagan-Steet H, Sharma V, Rosa S, Sonon R, Azadi P, Sadler KC, Freeze HH, Lehrman MA, Steet R. A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency. Mol Biol Cell. 2012;23(21):4175-87. PMCID: PMC3484097.
http://www.ncbi.nlm.nih.gov/pubmed/22956764
collapse Year : 2011 ‎(6)
2011
Ng BG, Sharma V, Sun L, Loh E, Hong W, Tay SK, Freeze HH. Identification of the first COG-CDG patient of Indian origin. Mol Genet Metab. 2011;102(3):364-7. PMCID: PMC3058693.
http://www.ncbi.nlm.nih.gov/pubmed/21185756
2011
Sharma V, Freeze HH. Mannose efflux from the cells: a potential source of mannose in blood. J Biol Chem. 2011;286(12):10193-200. PMCID: PMC3060472.
http://www.ncbi.nlm.nih.gov/pubmed/21273394
2011
Miller BS, Freeze HH, Hoffmann GF, Sarafoglou K. Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab. 2011;103(1):101-3. PMCID: PMC3869397.
http://www.ncbi.nlm.nih.gov/pubmed/21334936
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