March 17, 2003The Journal of General PhysiologyOpen Access

The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

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Population

Myotubes derived from RyR1-knockout (dyspedic) mice

Design

Preclinical

Authors

GÁGuillermo ÁvilaCenter for Research and Advanced Studies of the National Polytechnic Institute KOKristen M.S. O’ConnellTufts University RDRobert T. DirksenElectrophysiology

Discussion

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Implication

Exon 102 RyR1 mutations may drive EC uncoupling in CCD; leaves open therapeutic targeting pending validation in human models.

Structured PICO

Population

Myotubes derived from RyR1-knockout (dyspedic) mice

Intervention

Expression of RyR1 mutations (Y523S, Y4795C, I4897T, double mutants Y523S/I4897T and Y4795C/I4897T, and exon 102 mutations)

Outcome

Excitation-contraction (EC) coupling and voltage-gated Ca2+ releasesurrogate

CCD mutations in exon 102 of the RyR1 gene disrupt release channel permeation to Ca2+ during EC coupling, identifying this region as a primary locus for EC uncoupling.

Cite This Study

Ávila et al. (2003) studied this question.

synapsesocial.com/papers/6a8c0709c12eaf65c8b22ab3 https://doi.org/10.1085/jgp.200308791

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The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

Discussion

Member takes

Implication

Structured PICO

Cite This Study

The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

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