Associated Papers
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özsoy Ö et al.
Molecular Syndromology, 2023
A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice.
Hyde LF et al.
International Journal of Molecular Sciences, 2022
DPAGT1-Mediated Protein N-Glycosylation Is Indispensable for Oocyte and Follicle Development in Mice.
Li H et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2020
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Ng BG et al.
Jimd Reports, 2019
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic Design.
Dong YY et al.
Cell, 2018
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
Kane MS et al.
American Journal of Human Genetics, 2016
Fetal akinesia deformation sequence due to a congenital disorder of glycosylation.
Ganetzky R et al.
American Journal of Medical Genetics. Part A, 2015
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1.
Finlayson S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2013
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.
Iqbal Z et al.
European Journal of Human Genetics : Ejhg, 2013
Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Belaya K et al.
Annals of the New York Academy of Sciences, 2012
Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
Belaya K et al.
American Journal of Human Genetics, 2012
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
Würde AE et al.
Molecular Genetics and Metabolism, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Congenital disorders of glycosylation: a booming chapter of pediatrics.
Jaeken J et al.
Current Opinion in Pediatrics, 2004
Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.
Wu X et al.
Human Mutation, 2003