Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

PloS one - 1 Jan 2017

Yuste-Checa Patricia, Vega Ana I, Martín-Higueras Cristina, Medrano Celia, Gámez Alejandra, Desviat Lourdes R, Ugarte Magdalena, Pérez-Cerdá Celia, Pérez Belén

Abstract excerpt

Pathogenic mutations in DPAGT1 are manifested as two possible phenotypes: congenital disorder of glycosylation DPAGT1-CDG (also known as CDG-Ij), and limb-girdle congenital myasthenic syndrome (CMS) with tubular aggregates. UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosamine phosphotransferase (GPT), the protein encoded by DPAGT1, is an endoplasmic reticulum (ER)-resident protein involved in an initial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chlorocebus aethiops
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COS Cells

Share to Endoplasmic Reticulum Stress

Share to Microscopy, Fluorescence

Share to N-Acetylglucosaminyltransferases

Share to Real-Time Polymerase Chain Reaction

Share to Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 28662078
DOI: 10.1371/journal.pone.0179456
PMCID: PMC5491010

Genes

DPAGT1
DPM1
GPT
PMM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.PMID 28662078Read ↗

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.Semantic proximity Read ↗

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.Semantic proximity Read ↗

Congenital Myasthenia Syndrome Due to a Novel DPAGT1 Gene Mutation - An Error of Glycosylation Masquerading as a Congenital Myopathy.Semantic proximity Read ↗

RFT1 deficiency in three novel CDG patients.Semantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij.Semantic proximity Read ↗

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.Semantic proximity Read ↗

DPAGT1-CDG: report of a patient with fetal hypokinesia phenotype.Semantic proximity Read ↗

A genome-wide CRISPR screen identifies the glycosylation enzyme DPM1 as a modifier of DPAGT1 deficiency and ER stressSemantic proximity Read ↗

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in SpainSemantic proximity Read ↗

Congenital disorders of glycosylation (CDG): Quo vadis?Semantic proximity Read ↗

Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.