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

Consequences of GMPPB deficiency for neuromuscular development and maintenance

14 Feb 2024

Abstract excerpt

Guanosine diphosphate-mannose pyrophosphorylase B (GMPPB) catalyzes the conversion of mannose-1-phosphate and GTP to GDP-mannose, which is required as a mannose donor for the biosynthesis of glycan structures necessary for proper cellular functions. Mutations in GMPPB have been associated with various neuromuscular disorders such as muscular dystrophy and myasthenic syndromes. Here, we report that GMPPB protein...

Read the complete abstract on PubMed

Topics

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

Share to Genetics and Neurodevelopmental Disorders
Share to Glycogen Storage Diseases and Myoclonus
Share to Neurogenetic and Muscular Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 38419795
DOI: 10.3389/fnmol.2024.1356326

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Consequences of GMPPB deficiency for neuromuscular development and maintenancePMID 38419795Read ↗

Genetically Engineered Mouse Models Unveil Mechanisms and Therapeutic Strategies for GMPPB-Associated DystroglycanopathySemantic proximity Read ↗

GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPBSemantic proximity Read ↗

Gmppb-mutant mice exhibit dystroglycanopathy symptoms that are rescued with GSK3β inhibition or AAV-mediated GMPPB gene replacement.Semantic proximity Read ↗

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.Semantic proximity Read ↗

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.Semantic proximity Read ↗

Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.Semantic proximity Read ↗

Expanding the phenotype of GMPPB mutations.Semantic proximity Read ↗

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional studySemantic proximity Read ↗

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.Semantic proximity Read ↗

A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.Semantic proximity Read ↗

The myotubularin family: from genetic disease to phosphoinositide metabolism.Semantic proximity Read ↗

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.Semantic proximity Read ↗

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