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Genetics

D-Index
88
Citations
29770
World Ranking
1164
National Ranking
561

Overview

Hudson H. Freeze is affiliated with the Discovery Institute in the United States. Their research spans several areas within biochemistry, genetics, and molecular biology with a strong focus on glycosylation and related disorders.

The primary fields of study associated with Freeze's work include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these, they have contributed extensively to particular subfields such as:

  • Molecular Biology
  • Genetics
  • Physiology
  • Organic Chemistry
  • Cell Biology

The main scientific topics covered in their publications are:

  • Glycosylation and Glycoproteins Research
  • Carbohydrate Chemistry and Synthesis
  • Lysosomal Storage Disorders Research
  • Genomics and Rare Diseases
  • Biochemical and Molecular Research
  • Pancreatic function and diabetes
  • Genetics and Neurodevelopmental Disorders

Freeze's frequent co-authors include:

  • Bobby G. Ng
  • Kimiyo Raymond
  • Zhi-Jie Xia
  • Andrew C. Edmondson
  • Christina Lam

Their research has been published in a range of scientific journals, most notably:

  • Journal of Inherited Metabolic Disease
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Molecular Genetics and Metabolism
  • Genetics in Medicine Open
  • Journal of Biological Chemistry

Several recent publications exemplify their research focus:

  • "International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management" (2020), Journal of Inherited Metabolic Disease
  • "Golgi Acidification by NHE7 Regulates Cytosolic pH Homeostasis in Pancreatic Cancer Cells" (2020), Cancer Discovery
  • "Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology" (2024), Molecular Genetics and Metabolism
  • "Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions" (2020), Journal of Inherited Metabolic Disease
  • "Expanding the molecular and clinical phenotypes of FUT8-CDG" (2020), Journal of Inherited Metabolic Disease

Best Publications

  • Essentials of Glycobiology

    Ajit Varki;Richard D Cummings;Jeffrey D Esko;Hudson H Freeze

  • Thermus aquaticus gen. n. and sp. n., a Nonsporulating Extreme Thermophile

    Thomas D. Brock;Hudson Freeze

  • Symbol Nomenclature for Graphical Representations of Glycans.

    Ajit Varki;Richard D. Cummings;Markus Aebi;Nicole H. Packer

  • Lysosomal Protease Pathways to Apoptosis: CLEAVAGE OF Bid, NOT PRO-CASPASES, IS THE MOST LIKELY ROUTE *

    Veronika Stoka;Veronika Stoka;Boris Turk;Sharon L. Schendel;Tae Hyoung Kim

  • Proinflammatory S100 proteins regulate the accumulation of myeloid-derived suppressor cells.

    Pratima Sinha;Chinonyerem Okoro;Dirk Foell;Hudson H. Freeze

  • Genetic defects in the human glycome

    Hudson H. Freeze

  • Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

    R. Niehues;M. Hasilik;G. Alton;C. Korner

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

    Olga Turovskaya;Dirk Foell;Pratima Sinha;Thomas Vogl

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

    Geetha Srikrishna;Hudson H. Freeze

  • SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    Vincent Cantagrel;Dirk J. Lefeber;Bobby G. Ng;Ziqiang Guan

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

    Xiaohua Wu;Richard A Steet;Ognian Bohorov;Jaap Bakker

  • Correction of Leukocyte Adhesion Deficiency Type II With Oral Fucose

    Thorsten Marquardt;Kerstin Lühn;Kerstin Lühn;Kerstin Lühn;Geetha Srikrishna;Geetha Srikrishna;Geetha Srikrishna;Hudson H. Freeze;Hudson H. Freeze;Hudson H. Freeze

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

    Hudson H Freeze;Markus Aebi

  • Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

    Hudson H. Freeze;Jessica X. Chong;Michael J. Bamshad;Bobby G. Ng

  • Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

    Laura C. Tegtmeyer;Stephan Rust;Monique van Scherpenzeel;Bobby G. Ng

  • Symbol nomenclature for glycan representation

    Ajit Varki;Richard D. Cummings;Jeffrey D. Esko;Hudson H. Freeze

  • Understanding human glycosylation disorders: biochemistry leads the charge.

    Hudson H. Freeze

  • Neurology of inherited glycosylation disorders

    Hudson H Freeze;Erik A Eklund;Bobby G Ng;Marc C Patterson

  • Neurological aspects of human glycosylation disorders.

    Hudson H. Freeze;Erik A. Eklund;Bobby G. Ng;Marc C. Patterson

  • Inhibition of N-Linked Glycosylation Disrupts Receptor Tyrosine Kinase Signaling in Tumor Cells

    Joseph N. Contessa;Mahaveer S. Bhojani;Hudson H. Freeze;Alnawaz Rehemtulla

Frequent Co-Authors

Ajit Varki
Ajit Varki University of California, San Diego
Jeffrey D. Esko
Jeffrey D. Esko University of California, San Diego
Richard D. Cummings
Richard D. Cummings Harvard Medical School
Gerald W. Hart
Gerald W. Hart University of Georgia
Michael J. Bamshad
Michael J. Bamshad University of Washington
Pamela Stanley
Pamela Stanley Albert Einstein College of Medicine
Carolyn R. Bertozzi
Carolyn R. Bertozzi Stanford University
Deborah A. Nickerson
Deborah A. Nickerson University of Washington
Lars Bode
Lars Bode University of California, San Diego
Jay Shendure
Jay Shendure University of Washington

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