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List of works by Hudson H. Freeze

-N-Acetylgalactosamine-capping of chondroitin sulfate core region oligosaccharides primed on xylosides ⬇️

scientific article published on August 1, 1998

A "glyconutrient sham"

scientific article

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

scientific article published on October 2015

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

scientific article

A glycogene mutation map for discovery of diseases of glycosylation

scientific article

A new approach to mapping co-localization of multiple glycosyl transferases in functional Golgi preparations

scientific article published on 01 March 1996

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

scientific article

A novel method to co-localize glycosaminoglycan-core oligosaccharide glycosyltransferases in rat liver Golgi. Co-localization of galactosyltransferase I with a sialyltransferase

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific journal article

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA.

scientific article published on 25 April 2014

Ablation of mouse phosphomannose isomerase (Mpi) causes mannose 6-phosphate accumulation, toxicity, and embryonic lethality

scientific journal article

Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome type 1.

scientific article published on August 1997

Achondrogenesis Type 1A — From Mouse to Human

scientific article published on 01 January 2010

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

scientific article

Affinity capture and elution/electrospray ionization mass spectrometry assay of phosphomannomutase and phosphomannose isomerase for the multiplex analysis of congenital disorders of glycosylation types Ia and Ib.

scientific article published in January 2003

Aglycone structure influences alpha-fucosyltransferase III activity using N-acetyllactosamine glycoside acceptors.

scientific article published in November 1999

Agm1/Pgm3-mediated sugar nucleotide synthesis is essential for hematopoiesis and development

scientific journal article

Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis.

scientific article published on July 1997

Altered glycan structures: the molecular basis of congenital disorders of glycosylation

scientific article

An IgG monoclonal antibody against Dictyostelium discoideum glycoproteins specifically recognizes Fucalpha1,6GlcNAcbeta in the core of N-linked glycans. Localized expression of core-fucosylated glycoconjugates in human tissues

scientific article

Applied glycoproteomics--approaches to study genetic-environmental collisions causing protein-losing enteropathy

scientific article

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

scientific article

Balancing N-linked glycosylation to avoid disease

scientific article (publication date: August 2001)

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

scientific article

Biochemical and genetic analysis of an antigenic determinant found on N-linked oligosaccharides inDictyostelium

scientific article published on 01 January 1990

CDG nomenclature: time for a change!

scientific article

CDG-Id in two siblings with partially different phenotypes

scientific article published on 01 July 2007

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

scientific article published in March 2007

Carbohydrate composition of purified serum glycoproteins in mucolipidosis II and mucolipidosis III.

scientific article published on October 1978

Carboxylated N-glycans on RAGE promote S100A12 binding and signaling

scientific article

Cell-free N-glycosylation in Dictyostelium discoideum: analysis of wild-type and mutants defective in lipid-linked oligosaccharide biosynthesis.

scientific article published in May 1990

Characteristics of the sulfation of N-linked oligosaccharides in vesicles from Dictyostelium discoideum: In vitro sulfation of lysosomal enzymes

scientific article published on 01 September 1989

Characterization and distribution of multiple antigens on N-linked oligosaccharides of Dictyostelium discoideum proteins

scientific article published in March 1987

Characterization of mammalian UDP-GalNAc:glucuronide alpha 1-4-N-acetylgalactosaminyltransferase

scientific article published on October 1999

Characterization, subcellular localization, and developmental regulation of a cysteine proteinase from Dictyostelium discoideum

scientific article published in August 1995

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

scientific article published on 01 August 2005

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

scientific article published in November 2002

Cloning and characterization of glucose transporter 11, a novel sugar transporter that is alternatively spliced in various tissues

scientific article

Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond

scientific article published on June 2007

Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology.

scientific article published in December 2005

Congenital disorder of glycosylation Ic due to a de novo deletion and an hALG-6 mutation

scientific article

Congenital disorder of glycosylation Ic in patients of Indian origin

scientific article

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

scientific article

Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia

scientific article

Congenital disorders of glycosylation and the pediatric liver.

scientific article

Congenital disorders of glycosylation: glycosylation defects in man and biological models for their study

scientific article

Consequences of disrupting the gene that encodes alpha-glucosidase II in the N-linked oligosaccharide biosynthesis pathway of Dictyostelium discoideum

scientific article published in January 1997

Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation

scientific article published in February 2006

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation

scientific article published on 2 February 2012

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

scientific article published on 17 August 2018

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

scientific article

Deficiency of the Cog8 subunit in normal and CDG-derived cells impairs the assembly of the COG and Golgi SNARE complexes

scientific article

Direct utilization of mannose for mammalian glycoprotein biosynthesis ⬇️

scientific article published on March 1, 1998

Dissecting functions of the conserved oligomeric Golgi tethering complex using a cell-free assay

scientific article published on 31 October 2013

Editorial [Hot Topic: Novel Perspectives on Glycosylation and Human Disease (Guest Editor: Hudson H. Freeze)]

scientific article published on 01 June 2007

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

Endo-glycosidase F and peptide N-glycosidase F release the great majority of total cellular N-linked oligosaccharides: use in demonstrating that sulfated N-linked oligosaccharides are frequently found in cultured cells

scientific article

Endogenous damage-associated molecular pattern molecules at the crossroads of inflammation and cancer

scientific article published on July 2009

Endoglycosidase and glycoamidase release of N-linked glycans

scientific article published on November 2010

Endoglycosidase and glycoamidase release of N-linked glycans.

scientific article

Enzymes Involved in the Synthesis of Mannose-6-phosphate from Glucose Are Normal in Carbohydrate Deficient Glycoprotein Syndrome Fibroblasts

scientific article published on 01 March 1995

Essentials of glycosylation

scientific article

Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts

scientific article published on 20 January 2009

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality

scientific article published in June 2007

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

scientific article

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

scientific article

Fucosebeta-1-P-Ser is a new type of glycosylation: using antibodies to identify a novel structure in Dictyostelium discoideum and study multiple types of fucosylation during growth and development

scientific article

GLUT14, a duplicon of GLUT3, is specifically expressed in testis as alternative splice forms

scientific article

Genetic defects in the human glycome

scientific article

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG-Ib).

scientific article

Glycobiology of neuromuscular disorders

scientific article

Glycosylation diseases: quo vadis?

scientific article

Golgi glycosylation and human inherited diseases

scientific article published on September 2011

HNF4α antagonists discovered by a high-throughput screen for modulators of the human insulin promoter

scientific article

Heparan sulfate and syndecan-1 are essential in maintaining murine and human intestinal epithelial barrier function

scientific article

Heparan sulfate depletion amplifies TNF-alpha-induced protein leakage in an in vitro model of protein-losing enteropathy.

scientific article

Heparan sulfate plays a central role in a dynamic in vitro model of protein-losing enteropathy

scientific article published on 24 January 2006

Human disorders in N-glycosylation and animal models

scientific article

Human fibroblasts prefer mannose over glucose as a source of mannose for N-glycosylation. Evidence for the functional importance of transported mannose

scientific article published on September 1997

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

scientific article

Human glycosylation disorders and sugar supplement therapy.

scientific article

Human melanoma and Chinese hamster ovary cells galactosylate n-alkyl-β-glucosides using UDP gal:GlcNAc β1,4 galactosyltransferase

article

Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts

scientific article published on 3 August 2005

Identification of N-acetylglucosamine-alpha-1-phosphate transferase activity in Dictyostelium discoideum: an enzyme that initiates phosphoglycosylation

scientific article published in March 1995

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

scientific article

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

scientific article

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

scientific article published on May 2008

Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation

scientific article published on 04 December 2013

Intact Golgi synthesize complex branched O-linked chains on glycoside primers: evidence for the functional continuity of seven glycosyltransferases and three sugar nucleotide transporters

scientific article published on August 2001

Intracranial hemorrhage as the initial manifestation of a congenital disorder of glycosylation

scientific article

Isolation and characterization of a component of the surface sheath of Dictyostelium discoideum ⬇️

scientific article published in Journal of Biological Chemistry

Lysosomal protease pathways to apoptosis. Cleavage of bid, not pro-caspases, is the most likely route

scientific article

Mannose 6-sulfate is present in the N-linked oligosaccharides of lysosomal enzymes of Dictyostelium

scientific article

Mannose efflux from the cells: a potential source of mannose in blood

scientific article

Mannose enters mammalian cells using a specific transporter that is insensitive to glucose

scientific article published on April 1996

Mannose metabolism: more than meets the eye.

scientific article

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice

scientific article published on 13 January 2014

Mass spectrometry provides sweet inspiration

scientific article published on 01 June 2003

Metabolic manipulation of glycosylation disorders in humans and animal models

scientific article (publication date: August 2010)

Metabolically programmed quality control system for dolichol-linked oligosaccharides

scientific journal article

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation

scientific article published on 19 January 2016

Molecular and clinical characterization of a Moroccan Cog7 deficient patient

scientific article published on 28 March 2007

Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig.

scientific article published on 11 November 2004

Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity

scientific article

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

scientific article published on 22 April 2010

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Multiple phenotypes in phosphoglucomutase 1 deficiency

scientific article

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

scientific article

Mutations in GET4 disrupt the transmembrane domain recognition complex pathway

scientific article published on 12 May 2020

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

scientific article (publication date: November 2000)

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

scientific article published on 10 July 2013

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome

scientific article published on 22 March 2012

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

scientific article published on 16 April 2019

N -Glycans on the receptor for advanced glycation end products influence amphoterin binding and neurite outgrowth

scientific article

N-glycosylation deficiency reduces ICAM-1 induction and impairs inflammatory response

scientific article published on 28 January 2014

NGLY1 mutation causes neuromotor impairment, intellectual disability, and neuropathy

scientific article

Neurological aspects of human glycosylation disorders

scientific article

Neurology of inherited glycosylation disorders

scientific article

New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system

scientific article

Novel carboxylated N-glycans contain oligosaccharide-linked glutamic acid

scientific article published in July 2005

On the nomenclature of congenital disorders of glycosylation (CDG).

scientific article published on 24 October 2008

Oral ingestion of mannose elevates blood mannose levels: a first step toward a potential therapy for carbohydrate-deficient glycoprotein syndrome type I.

scientific article

Overview of glycoconjugate analysis

scientific article published on August 2009

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

scientific article published on 26 September 2011

Potent, selective, and orally available benzoisothiazolone phosphomannose isomerase inhibitors as probes for congenital disorder of glycosylation Ia.

scientific article published on 3 May 2011

Presence of a nonlysosomal endo-β-N-acetylglucosaminidase in the cellular slime mold Dictyostelium discoideum

scientific article published on 01 July 1984

Protein-losing enteropathy after fontan operation: investigations into possible pathophysiologic mechanisms

scientific article published in August 2006

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)

scientific article published on 03 February 2011

Quantitative estimation of bacteriochlorophyll in situ

scientific article published on 01 February 1970

RAGE, carboxylated glycans and S100A8/A9 play essential roles in colitis-associated carcinogenesis

scientific article

RFT1 deficiency in three novel CDG patients

scientific article

Reduced production of sulfated glycosaminoglycans occurs in Zambian children with kwashiorkor but not marasmus

scientific article

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

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

scientific article

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

scientific article published on 3 September 2015

Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation

scientific article published on 04 October 2013

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

scientific article published on February 2014

Spatial regulation of Golgi phosphatidylinositol-4-phosphate is required for enzyme localization and glycosylation fidelity

scientific article published on 21 June 2010

Stimulation of chondrocyte-mediated cartilage destruction by S100A8 in experimental murine arthritis

scientific article

Structure-activity profiles of complex biantennary glycans with core fucosylation and with/without additional alpha 2,3/alpha 2,6 sialylation: synthesis of neoglycoproteins and their properties in lectin assays, cell binding, and organ uptake

scientific article

Studies of mannose metabolism and effects of long-term mannose ingestion in the mouse

scientific article

Sweet solution: sugars to the rescue

scientific article

Symbol Nomenclature for Graphical Representations of Glycans

scientific article

Symbol nomenclature for glycan representation

scientific article

TMEM165 deficiency causes a congenital disorder of glycosylation

scientific article

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation

scientific article

Testing for congenital disorders of glycosylation by HPLC measurement of serum transferrin glycoforms

scientific article published in May 2004

The Nuclear Overhauser Effect in the lead identification process

scientific article published on June 2006

The congenital disorders of glycosylation: a multifaceted group of syndromes

scientific article

The cysteine proteinase gene cprG in Dictyostelium discoideum has a serine-rich domain that contains GlcNAc-1-P.

scientific article published in March 1997

The metabolic origins of mannose in glycoproteins

scientific article published on 09 January 2014

The relative contribution of mannose salvage pathways to glycosylation in PMI-deficient mouse embryonic fibroblast cells

scientific article published on 22 January 2008

The role of the fibrillar component of the surface sheath in the morphogenesis of Dictyostelium discoideum

scientific article published on March 1, 1977

The transcription factor ATF2 promotes melanoma metastasis by suppressing protein fucosylation

scientific article published on 8 December 2015

Therapeutic Monosaccharides: Looking Back, Moving Forward

scientific article published on 22 August 2019

Thermostable aldolase from Thermus aquaticus

scientific article

Thermus aquaticus gen. n. and sp. n., a nonsporulating extreme thermophile

scientific article

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

scientific article published on September 2009

UDP-GlcNAc:Ser-ProteinN-Acetylglucosamine-1-Phosphotransferase fromDictyostelium discoideum Recognizes Serine-containing Peptides and Eukaryotic Cysteine Proteinases ⬇️

scientific article published on November 7, 1997

Understanding human glycosylation disorders: biochemistry leads the charge

scientific article published on 17 January 2013

Unusual anionic N-linked oligosaccharides from bovine lung.

scientific article published on November 1995

Using heparin therapy to reverse protein-losing enteropathy in a patient with CDG-Ib

scientific article

trappc11 is required for protein glycosylation in zebrafish and humans

scientific article

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