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

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy

12 May 2017

Abstract excerpt

Sialic acids are monosaccharides found in terminal sugar chains of cell surfaces and proteins; they have various biological functions and have been implicated in health and disease. Genetic defects of the GNE gene which encodes a critical bifunctional enzyme for sialic acid biosynthesis, lead to GNE myopathy, a disease manifesting with progressive muscle atrophy and weakness. The likely mechanism of disease is a...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Inflammatory Myopathies and Dermatomyositis
Share to Muscle Physiology and Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 28505249
DOI: 10.1093/hmg/ddx192

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathyPMID 28505249Read ↗

The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates.Semantic proximity Read ↗

Non-specific accumulation of glycosphingolipids in GNE myopathy.Semantic proximity Read ↗

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.Semantic proximity Read ↗

In vivo and in vitro genome editing to explore GNE functionsSemantic proximity Read ↗

Recent advances in establishing a cure for GNE myopathy.Semantic proximity Read ↗

GNE myopathy: from clinics and genetics to pathology and research strategiesSemantic proximity Read ↗

Understanding pathophysiology of GNE myopathy and current progress towards drug development.Semantic proximity Read ↗

Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre.Semantic proximity Read ↗

Effects of altered sialic acid biosynthesis on N-linked glycan branching and cell surface interactions.Semantic proximity Read ↗

Potential small effector molecules restoring cellular defects due to sialic acid biosynthetic enzyme deficiency: Pathological relevance to GNE myopathy.Semantic proximity Read ↗

Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.Semantic proximity Read ↗

Aberrant O-GlcNAcylation disrupts GNE enzyme activity in GNE myopathy.Semantic proximity Read ↗

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