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Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes.

Abstract:

Slow channel congenital myasthenic syndrome (SCCMS) is a dominant disorder caused by missense mutations in muscle acetylcholine receptors (AChR). Expression from mutant alleles causes prolonged AChR ion-channel activations. This 'gain of function' results in excitotoxic damage due to excess entry of calcium ions that manifests as an endplate myopathy. The biology of SCCMS provides a model system to investigate the potential of catalytic nucleic acids for therapy in dominantly inherited disord...

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Role:
Author
Journal:
Journal of RNAi and gene silencing : an international journal of RNA and gene targeting research
Volume:
1
Issue:
1
Pages:
26-31
Publication date:
2005-01-01
EISSN:
1747-0854
URN:
uuid:243a49ba-867d-4b65-bff8-9547be4af0af
Source identifiers:
324344
Local pid:
pubs:324344

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