Bobby G Ng

Bobby G Ng

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Bobby G Ng

Bobby G Ng

Publications by authors named "Bobby G Ng"

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Therapeutic Monosaccharides: Looking Back, Moving Forward.

Biochemistry 2019 Aug 22. Epub 2019 Aug 22.

Human Genetics Program , Sanford Burnham Prebys Medical Discovery Institute , La Jolla , California 92037 , United States.

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http://dx.doi.org/10.1021/acs.biochem.9b00565DOI Listing
August 2019

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

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

ALG11-CDG syndrome: Expanding the phenotype.

Am J Med Genet A 2019 Mar 24;179(3):498-502. Epub 2019 Jan 24.

Clinical Genetics, Stanford Children's Health, Palo Alto, California.

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http://dx.doi.org/10.1002/ajmg.a.61046DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426632PMC
March 2019

Factor VIII and vWF deficiency in STT3A-CDG.

J Inherit Metab Dis 2019 Mar 30;42(2):325-332. Epub 2019 Jan 30.

Department of Pediatrics, Division of Medical Genetics, University of Washington, Seattle, Western Australia.

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http://dx.doi.org/10.1002/jimd.12021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658093PMC
March 2019

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Am J Hum Genet 2018 12 29;103(6):1030-1037. Epub 2018 Nov 29.

Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288200PMC
December 2018

Perspectives on Glycosylation and Its Congenital Disorders.

Trends Genet 2018 06 29;34(6):466-476. Epub 2018 Mar 29.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2018.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959770PMC
June 2018

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

Am J Med Genet A 2017 Nov 29;173(11):2906-2911. Epub 2017 Aug 29.

Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California.

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http://doi.wiley.com/10.1002/ajmg.a.38412
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http://dx.doi.org/10.1002/ajmg.a.38412DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5650519PMC
November 2017

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

Nat Commun 2017 02 20;8:14516. Epub 2017 Feb 20.

Department of Molecular Structural Biology, Max-Planck Institute of Biochemistry, Am Klopferspitz 18, 82152 Martinsried, Germany.

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http://dx.doi.org/10.1038/ncomms14516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321747PMC
February 2017

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

Pediatr Int 2016 Aug 21;58(8):785-8. Epub 2016 Jun 21.

Division of Neonatology, Stead Family Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1111/ped.12988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996748PMC
August 2016

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

J Inherit Metab Dis 2016 Jan 3;39(1):107-14. Epub 2015 Sep 3.

Department of Pediatrics, Clinical Sciences, Lund University, BMC D12, 221 84, Lund, Sweden.

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http://dx.doi.org/10.1007/s10545-015-9884-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822552PMC
January 2016

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

Glycobiology 2015 Aug 21;25(8):836-44. Epub 2015 Apr 21.

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA

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https://academic.oup.com/glycob/article-lookup/doi/10.1093/g
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http://dx.doi.org/10.1093/glycob/cwv024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487302PMC
August 2015

Neurological aspects of human glycosylation disorders.

Annu Rev Neurosci 2015 Jul 2;38:105-25. Epub 2015 Apr 2.

Sanford-Burnham Medical Research Institute, La Jolla, California 92037; email: ,

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http://dx.doi.org/10.1146/annurev-neuro-071714-034019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4809143PMC
July 2015

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

Hum Mol Genet 2015 Jun 12;24(11):3050-7. Epub 2015 Feb 12.

Human Genetics Program, Sanford - Burnham Medical Research Institute, 10901 N. Torrey Pines Rd, La Jolla, CA 92037, USA

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http://dx.doi.org/10.1093/hmg/ddv057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424951PMC
June 2015

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

J Inherit Metab Dis 2015 Jan 28;38(1):171-8. Epub 2014 Aug 28.

Human Genetics Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA, 92037, USA.

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http://link.springer.com/10.1007/s10545-014-9752-1
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http://dx.doi.org/10.1007/s10545-014-9752-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4373530PMC
January 2015

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Am J Hum Genet 2014 Feb;94(2):161-75

Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.10.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928651PMC
February 2014

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

Hum Mol Genet 2013 Nov 10;22(22):4638-45. Epub 2013 Jul 10.

Department of Biochemistry and Molecular Pharmacology, University of Massachusetts Medical School, Worcester, MA 01605, USA.

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http://dx.doi.org/10.1093/hmg/ddt312DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3888133PMC
November 2013

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

FASEB J 2012 Oct 12;26(10):4210-7. Epub 2012 Jun 12.

Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, 10901 N. Torrey Pines Rd., La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1096/fj.12-211656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448770PMC
October 2012

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

J Biol Chem 2012 May 11;287(22):18210-7. Epub 2012 Apr 11.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, California 92037, USA.

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http://dx.doi.org/10.1074/jbc.M112.355677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3365753PMC
May 2012

Neurology of inherited glycosylation disorders.

Lancet Neurol 2012 May;11(5):453-66

Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/S1474-4422(12)70040-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625645PMC
May 2012

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Am J Hum Genet 2012 Apr 22;90(4):685-8. Epub 2012 Mar 22.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3322218PMC
April 2012

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.

J Biol Chem 2011 Nov 26;286(45):39431-8. Epub 2011 Sep 26.

Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, California 92037, USA.

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http://dx.doi.org/10.1074/jbc.M111.285502DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234766PMC
November 2011

Golgi glycosylation and human inherited diseases.

Cold Spring Harb Perspect Biol 2011 Sep 1;3(9):a005371. Epub 2011 Sep 1.

Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute, La Jolla, California 92037, USA.

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http://dx.doi.org/10.1101/cshperspect.a005371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3181031PMC
September 2011

Identification of the first COG-CDG patient of Indian origin.

Mol Genet Metab 2011 Mar 24;102(3):364-7. Epub 2010 Nov 24.

Sanford I Burnham Medical Research Institute, 10901 N. Torrey Pines Rd., La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.11.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058693PMC
March 2011

RFT1 deficiency in three novel CDG patients.

Hum Mutat 2009 Oct;30(10):1428-34

Laboratory for Molecular Diagnosis, Center for Human Genetics, University of Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/humu.21085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869400PMC
October 2009

Molecular and clinical characterization of a Moroccan Cog7 deficient patient.

Mol Genet Metab 2007 Jun 28;91(2):201-4. Epub 2007 Mar 28.

Department of Glycobiology and Carbohydrate Chemistry, Burnham Institute for Medical Research, La Jolla, CA 92037, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941618PMC
June 2007

Identification of a synovial fibroblast-specific protein transduction domain for delivery of apoptotic agents to hyperplastic synovium.

Mol Ther 2003 Aug;8(2):295-305

Department of Molecular Genetics and Biochemistry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1016/s1525-0016(03)00181-3DOI Listing
August 2003