ImpairedO-LinkedN-Acetylglucosaminylation in the Endoplasmic Reticulum by Mutated Epidermal Growth Factor (EGF) Domain-specificO-LinkedN-Acetylglucosamine Transferase Found in Adams-Oliver Syndrome

Mutations in NOTCH1 Cause Adams-Oliver Syndrome

(2014) Anna-Barbara Stittrich et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Antibodies That DetectO-Linked β-d-N-Acetylglucosamine on the Extracellular Domain of Cell Surface Glycoproteins

(2014) Yuko Tashima et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Epigenetic Regulation of a Brain-specific GlycosyltransferaseN-Acetylglucosaminyltransferase-IX (GnT-IX) by Specific Chromatin Modifiers

(2014) Yasuhiko Kizuka et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fringe-mediated extension of O-linked fucose in the ligand-binding region of Notch1 increases binding to mammalian Notch ligands

(2014) P. Taylor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome

(2013) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GTDC2 modifies O-mannosylated α-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody

(2013) Mitsutaka Ogawa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase

(2013) Idan Cohen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

UDP-N-acetylglucosamine Transporter (SLC35A3) Regulates Biosynthesis of Highly BranchedN-Glycans and Keratan Sulfate

(2013) Dorota Maszczak-Seneczko et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Roles of the nucleotide sugar transporters (SLC35 family) in health and disease

(2013) Zhiwei Song   MOLECULAR ASPECTS OF MEDICINE

The EGF Repeat-Specific O-GlcNAc-Transferase Eogt Interacts with Notch Signaling and Pyrimidine Metabolism Pathways in Drosophila

(2013) Reto Müller et al.   PLoS One

Substrate Specificity Provides Insights into the Sugar Donor Recognition Mechanism of O-GlcNAc Transferase (OGT)

(2013) Xiaofeng Ma et al.   PLoS One

SGK196 Is a Glycosylation-Specific O-Mannose Kinase Required for Dystroglycan Function

(2013) T. Yoshida-Moriguchi et al.   SCIENCE

AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan

(2013) Hirokazu Yagi et al.   Scientific Reports

Negative Regulation of Notch Signaling by Xylose

(2013) Tom V. Lee et al.   PLoS Genetics

RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome

(2012) Susan J. Hassed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

(2012) M. Chiara Manzini et al.   AMERICAN JOURNAL OF HUMAN GENETICS

O-linked-N-acetylglucosamine modification of mammalian Notch receptors by an atypical O-GlcNAc transferase Eogt1

(2012) Yuta Sakaidani et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

O-GlcNAc modification affects the ATM-mediated DNA damage response

(2012) Yuri Miura et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Site-specificO-Glucosylation of the Epidermal Growth Factor-like (EGF) Repeats of Notch

(2012) Hideyuki Takeuchi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Evidence of the Involvement ofO-GlcNAc-modified Human RNA Polymerase II CTD in Transcriptionin Vitroandin Vivo

(2012) Stella M. Ranuncolo et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Modification of EGF-Like Module 1 of Thrombospondin-1, an Animal Extracellular Protein, by O-Linked N-Acetylglucosamine

(2012) Brian R. Hoffmann et al.   PLoS One

Tandem mass spectrometry identifies many mouse brain O-GlcNAcylated proteins including EGF domain-specific O-GlcNAc transferase targets

(2012) J. F. Alfaro et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies

(2011) Laura Southgate et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cross Talk Between O-GlcNAcylation and Phosphorylation: Roles in Signaling, Transcription, and Chronic Disease

(2011) Gerald W. Hart et al.   Annual Review of Biochemistry

Terminal differentiation program of skeletal myogenesis is negatively regulated by O-GlcNAc glycosylation

(2011) Mitsutaka Ogawa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Galactose Differentially Modulates Lunatic and Manic Fringe Effects on Delta1-induced NOTCH Signaling

(2011) Xinghua Hou et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

O-Linked-N-acetylglucosamine on extracellular protein domains mediates epithelial cell–matrix interactions

(2011) Yuta Sakaidani et al.   Nature Communications

The hexosamine signaling pathway: O-GlcNAc cycling in feast or famine

(2009) John A. Hanover et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Metabolism, Cell Surface Organization, and Disease

(2009) James W. Dennis et al.   CELL

Rumi Is a CAP10 Domain Glycosyltransferase that Modifies Notch and Is Required for Notch Signaling

(2008) Melih Acar et al.   CELL

Roles of Pofut1 andO-Fucose in Mammalian Notch Signaling

(2008) Mark Stahl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

O-LinkedN-Acetylglucosamine Is Present on the Extracellular Domain of Notch Receptors

(2008) Aiko Matsuura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phosphoinositide signalling links O-GlcNAc transferase to insulin resistance

(2008) Xiaoyong Yang et al.   NATURE