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Article

Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.

Brain : a journal of neurology - 1 Oct 2006

Cossins Judy, Burke Georgina, Maxwell Susan, Spearman Hayley, Man Somai, Kuks Jan, Vincent Angela, Palace Jackie, Fuhrer Christian, Beeson David

Abstract excerpt

Congenital myasthenic syndromes are inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. Autosomal recessive acetylcholine receptor (AChR) deficiency syndromes, in which levels of this receptor at the neuromuscular junction are severely reduced, may be caused by mutations within genes encoding the AChR or the AChR-clustering protein, rapsyn. Most patients have mutations...

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Source

Identifiers

PMID: 16945936
DOI: 10.1093/brain/awl219

Genes

RAPSN

Variants

Provenance

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Related research

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Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.PMID 16945936Read ↗

Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome.Semantic proximity Read ↗

Identification of pathogenic mutations in the human rapsyn gene.Semantic proximity Read ↗

Rapsyn mutations in myasthenic syndrome due to impaired receptor clustering.Semantic proximity Read ↗

A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndromeSemantic proximity Read ↗

The role of Rapsyn in neuromuscular junction and congenital myasthenic syndromeSemantic proximity Read ↗

Rapsyn and agrin slow the metabolic degradation of the acetylcholine receptor.Semantic proximity Read ↗

Acetylcholine receptors direct rapsyn clusters to the neuromuscular synapse in zebrafish.Semantic proximity Read ↗

Role of rapsyn tetratricopeptide repeat and coiled-coil domains in self-association and nicotinic acetylcholine receptor clustering.Semantic proximity Read ↗

Rapsyn carboxyl terminal domains mediate muscle specific kinase-induced phosphorylation of the muscle acetylcholine receptor.Semantic proximity Read ↗

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations.Semantic proximity Read ↗

Distinct phenotypes of congenital acetylcholine receptor deficiency.Semantic proximity Read ↗

Acetylcholine receptors enable the transport of rapsyn from the Golgi complex to the plasma membrane.Semantic proximity Read ↗

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