Related references
Note: Only part of the references are listed.Cyclin D1 Stability Is Partly Controlled by O-GlcNAcylation
Louis Masclef et al.
FRONTIERS IN ENDOCRINOLOGY (2019)
Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry
E. A. Barbosa et al.
CLINICA CHIMICA ACTA (2019)
Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) Ilb
Min Li et al.
JOURNAL OF HUMAN GENETICS (2019)
Characteristic dysmorphic features in congenital disorders of glycosylation type IIb
Yoon-Myung Kim et al.
JOURNAL OF HUMAN GENETICS (2018)
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
Arnaud Bruneel et al.
ELECTROPHORESIS (2018)
Abrogation of glucosidase I-mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder
Giovanna L. Gallo et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2018)
Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
D. Marques-da-Silva et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Megan S. Kane et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation
Monique Van Scherpenzeel et al.
GLYCOCONJUGATE JOURNAL (2016)
Immunological aspects of congenital disorders of glycosylation (CDG): a review
Maria Monticelli et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
Confocal Imaging-Guided Laser Ablation of Basal Cell Carcinomas: An Ex Vivo Study
Heidy Sierra et al.
JOURNAL OF INVESTIGATIVE DERMATOLOGY (2015)
Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways
Hudson H. Freeze et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
O-GlcNAcylation stabilizes β-catenin through direct competition with phosphorylation at threonine 41
Stephanie Olivier-Van Stichelen et al.
FASEB JOURNAL (2014)
Congenital disorders of glycosylation: new defects and still counting
Kyle Scott et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Extra-cell cycle regulatory functions of cyclin-dependent kinases (CDK) and CDK inhibitor proteins contribute to brain development and neurological disorders
Takeshi Kawauchi et al.
GENES TO CELLS (2013)
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
Melanie A. Jones et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Neurology of inherited glycosylation disorders
Hudson H. Freeze et al.
LANCET NEUROLOGY (2012)
CDG nomenclature: Time for a change!
Jaak Jaeken et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2009)
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia)
S. Romano et al.
JOURNAL OF MEDICAL GENETICS (2009)
Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects
Jules G. Leroy
PEDIATRIC RESEARCH (2006)
Genetic defects in the human glycome (vol 7, pg 537, 2006)
Hudson H. Freeze
NATURE REVIEWS GENETICS (2006)
Genetic defects in the human glycome
Hudson H. Freeze
NATURE REVIEWS GENETICS (2006)
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
CM De Praeter et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)