Mutations inN-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

Identification and characterization of a missense mutation in theO-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

(2017) Krithika Vaidyanathan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

O -GlcNAc Transferase Is Essential for Sensory Neuron Survival and Maintenance

(2017) Cathy Su et al.   JOURNAL OF NEUROSCIENCE

O-GlcNAc transferase regulates excitatory synapse maturity

(2017) Olof Lagerlöf et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Proteolysis of HCF-1 by Ser/Thr glycosylation-incompetentO-GlcNAc transferase:UDP-GlcNAc complexes

(2016) Vaibhav Kapuria et al.   GENES & DEVELOPMENT

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

How the glycosyltransferase OGT catalyzes amide bond cleavage

(2016) John Janetzko et al.   Nature Chemical Biology

Roles of O-GlcNAcylation on amyloid-β precursor protein processing, tau phosphorylation, and hippocampal synapses dysfunction in Alzheimer’s disease

(2016) Bo-Wen Zheng et al.   NEUROLOGICAL RESEARCH

Loss ofO-GlcNAc glycosylation in forebrain excitatory neurons induces neurodegeneration

(2016) Andrew C. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A mutant O-GlcNAcase as a probe to reveal global dynamics of protein O-GlcNAcylation during Drosophila embryonic development

(2015) D. Mariappa et al.   BIOCHEMICAL JOURNAL

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain

(2015) L. A. Jolly et al.   HUMAN MOLECULAR GENETICS

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

(2015) H Hu et al.   MOLECULAR PSYCHIATRY

The active site of O-GlcNAc transferase imposes constraints on substrate sequence

(2015) Shalini Pathak et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The active site of O-GlcNAc transferase imposes constraints on substrate sequence

(2015) Shalini Pathak et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Dual functionality ofO-GlcNAc transferase is required forDrosophiladevelopment

(2015) Daniel Mariappa et al.   Open Biology

Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

(2015) Tejasvi S. Niranjan et al.   PLoS One

O-GlcNAcylation of AMPA Receptor GluA2 Is Associated with a Novel Form of Long-Term Depression at Hippocampal Synapses

(2014) E. W. Taylor et al.   JOURNAL OF NEUROSCIENCE

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

(2013) Hung-Chun Yu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

(2013) Kornelia Neveling et al.   HUMAN MUTATION

Electron transfer dissociation (ETD): The mass spectrometric breakthrough essential forO-GlcNAc protein site assignments-a study of theO-GlcNAcylated protein Host Cell Factor C1

(2013) Samuel A. Myers et al.   PROTEOMICS

HCF-1 Is Cleaved in the Active Site of O-GlcNAc Transferase

(2013) M. B. Lazarus et al.   SCIENCE

Cracking the O-GlcNAc code in metabolism

(2013) Hai-Bin Ruan et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dynamic O-GlcNAc modification regulates CREB-mediated gene expression and memory formation

(2012) Jessica E Rexach et al.   Nature Chemical Biology

O-GlcNAc Transferase Catalyzes Site-Specific Proteolysis of HCF-1

(2011) Francesca Capotosti et al.   CELL

O-GlcNAc modifications regulate cell survival and epiboly during zebrafish development

(2009) Danielle M Webster et al.   BMC DEVELOPMENTAL BIOLOGY

O-GlcNAc-glycosylation of β-catenin regulates its nuclear localization and transcriptional activity

(2008) Ria Sayat et al.   EXPERIMENTAL CELL RESEARCH

Cytosolic O-glycosylation is abundant in nerve terminals

(2003) Robert N. Cole et al.   JOURNAL OF NEUROCHEMISTRY