标题
A glycogene mutation map for discovery of diseases of glycosylation
作者
关键词
-
出版物
GLYCOBIOLOGY
Volume 25, Issue 2, Pages 211-224
出版商
Oxford University Press (OUP)
发表日期
2014-09-30
DOI
10.1093/glycob/cwu104
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
- (2014) Hudson H. Freeze et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Probing polypeptide GalNAc-transferase isoform substrate specificities by in vitro analysis
- (2014) Yun Kong et al. GLYCOBIOLOGY
- Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes
- (2013) Kirk E. Lohmueller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
- (2013) Hudson H. Freeze JOURNAL OF BIOLOGICAL CHEMISTRY
- C. elegans DPY-19 Is a C-Mannosyltransferase Glycosylating Thrombospondin Repeats
- (2013) Falk F.R. Buettner et al. MOLECULAR CELL
- The carbohydrate-active enzymes database (CAZy) in 2013
- (2013) Vincent Lombard et al. NUCLEIC ACIDS RESEARCH
- Relevance of UDP-glucuronosyltransferase polymorphisms for drug dosing: A quantitative systematic review
- (2013) J.C. Stingl et al. PHARMACOLOGY & THERAPEUTICS
- Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
- (2012) Sandrine Vuillaumier-Barrot et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Site-specific protein O-glycosylation modulates proprotein processing — Deciphering specific functions of the large polypeptide GalNAc-transferase gene family
- (2012) Katrine T.-B.G. Schjoldager et al. BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
- Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
- (2012) A. Albrechtsen et al. DIABETOLOGIA
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Vertebrate protein glycosylation: diversity, synthesis and function
- (2012) Kelley W. Moremen et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol
- (2012) Ian Tietjen et al. PLoS One
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Probing isoform-specific functions of polypeptide GalNAc-transferases using zinc finger nuclease glycoengineered SimpleCells
- (2012) K. T.- B. G. Schjoldager et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man
- (2011) Adriaan G. Holleboom et al. Cell Metabolism
- Dystroglycanopathies: coming into focus
- (2011) Caroline Godfrey et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Control of mucin-type O-glycosylation: A classification of the polypeptide GalNAc-transferase gene family
- (2011) E. P. Bennett et al. GLYCOBIOLOGY
- Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genes
- (2011) Santosh Kumar Patnaik et al. HUMAN MUTATION
- Lectin Domains of Polypeptide GalNAc Transferases Exhibit Glycopeptide Binding Specificity
- (2011) Johannes W. Pedersen et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- A Systematic Study of Site-specific GalNAc-typeO-Glycosylation Modulating Proprotein Convertase Processing
- (2011) Katrine Ter-Borch Gram Schjoldager et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Congenital disorders of glycosylation (CDG): it’s (nearly) all in it!
- (2011) Jaak Jaeken JOURNAL OF INHERITED METABOLIC DISEASE
- Golgi Glycosylation
- (2011) P. Stanley Cold Spring Harbor Perspectives in Biology
- Clinical variability of familial tumoral calcinosis caused by novelGALNT3mutations
- (2010) Shoji Ichikawa et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Development of Immunohistochemistry Assays to Assess GALNT14 and FUT3/6 in Clinical Trials of Dulanermin and Drozitumab
- (2010) H. M. Stern et al. CLINICAL CANCER RESEARCH
- Current trends in the structure-activity relationships of sialyltransferases
- (2010) M. Audry et al. GLYCOBIOLOGY
- Biological, clinical and population relevance of 95 loci for blood lipids
- (2010) Tanya M. Teslovich et al. NATURE
- Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants
- (2010) Yingrui Li et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides
- (2009) Micha A. Haeuptle et al. HUMAN MUTATION
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers
- (2009) K. Guda et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant
- (2008) Emma M. Clement et al. ARCHIVES OF NEUROLOGY
- Common variants at 30 loci contribute to polygenic dyslipidemia
- (2008) Sekar Kathiresan et al. NATURE GENETICS
- Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
- (2008) Sekar Kathiresan et al. NATURE GENETICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search