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

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Human mutation - 1 Feb 2017

Yuste-Checa Patricia, Brasil Sandra, Gámez Alejandra, Underhaug Jarl, Desviat Lourdes R, Ugarte Magdalena, Pérez-Cerdá Celia, Martinez Aurora, Pérez Belén

Abstract excerpt

The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic strategy involving pharmacological chaperones (PC) to rescue PMM2...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Disorders of Glycosylation
Share to Drug Discovery

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Screening Assays

Share to Loss of Function Mutation

Share to Phosphotransferases (Phosphomutases)

Share to Protein Stability

Share to Proteolysis

Share to Small Molecule Libraries

Source

Identifiers

PMID: 27774737
DOI: 10.1002/humu.23138

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.PMID 27774737Read ↗

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.Semantic proximity Read ↗

Proteostasis regulators as potential rescuers of PMM2 activity.Semantic proximity Read ↗

A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones.Semantic proximity Read ↗

Identification of potential inhibitors against pathogenic missense mutations of PMM2 using a structure-based virtual screening approach.Semantic proximity Read ↗

Protein misfolding diseases: Prospects of pharmacological treatment.Semantic proximity Read ↗

Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDGSemantic proximity Read ↗

HepG2 PMM2-CDG knockout model: A versatile platform for variant and therapeutic evaluation.Semantic proximity Read ↗

Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.Semantic proximity Read ↗

Yeast Models Of Phosphomannomutase 2 Deficiency, A Congenital Disorder Of GlycosylationSemantic proximity Read ↗

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].Semantic proximity Read ↗

Novel Treatment for Congenital Disorder of Glycosylation in a Patient with Novel Homozygote Mutation of PMM2: A Case Report and Review Literature.Semantic proximity Read ↗

Second-Generation Pharmacological Chaperones: Beyond Inhibitors.Semantic proximity Read ↗

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