Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
About this item
Full title
Author / Creator
Kushnir, Alexander , Todd, Joshua J. , Witherspoon, Jessica W. , Yuan, Qi , Reiken, Steven , Lin, Harvey , Munce, Ross H. , Wajsberg, Benjamin , Melville, Zephan , Clarke, Oliver B. , Wedderburn-Pugh, Kaylee , Wronska, Anetta , Razaqyar, Muslima S. , Chrismer, Irene C. , Shelton, Monique O. , Mankodi, Ami , Grunseich, Christopher , Tarnopolsky, Mark A. , Tanji, Kurenai , Hirano, Michio , Riazi, Sheila , Kraeva, Natalia , Voermans, Nicol C. , Gruber, Angela , Allen, Carolyn , Meilleur, Katherine G. and Marks, Andrew R.
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
RYR1
encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic
RYR1
variations can destabilize RyR1 leading to calcium leak causing oxidative overload and myopathy. However, the effect of RyR1 leak has not been established in individuals with
RYR...
Alternative Titles
Full title
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies
Authors, Artists and Contributors
Author / Creator
Todd, Joshua J.
Witherspoon, Jessica W.
Yuan, Qi
Reiken, Steven
Lin, Harvey
Munce, Ross H.
Wajsberg, Benjamin
Melville, Zephan
Clarke, Oliver B.
Wedderburn-Pugh, Kaylee
Wronska, Anetta
Razaqyar, Muslima S.
Chrismer, Irene C.
Shelton, Monique O.
Mankodi, Ami
Grunseich, Christopher
Tarnopolsky, Mark A.
Tanji, Kurenai
Hirano, Michio
Riazi, Sheila
Kraeva, Natalia
Voermans, Nicol C.
Gruber, Angela
Allen, Carolyn
Meilleur, Katherine G.
Marks, Andrew R.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7788518
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7788518
Other Identifiers
ISSN
0001-6322
E-ISSN
1432-0533
DOI
10.1007/s00401-020-02150-w
