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Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function

The ryanodine receptor mediates intracellular calcium ion release with excitation of nerve and muscle cells. Ryanodine receptor missense variants cause a number of myopathologies, such as malignant hyperthermia, and have been linked with various neuropathologies, including Alzheimer’s disease. We ch...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Graham, Brittany, Shaw, Marie-Anne, Hope, Ian A.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7054344/
https://ncbi.nlm.nih.gov/pubmed/32174957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00037
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