|
| 28687594 | Reduced threshold for store overload-induced Ca release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease. | Biochemical Journal | 2017 |
| 26040000 | Metformin increases degradation of phospholamban via autophagy in cardiomyocytes. | Proc Natl Acad Sci U S A | 2015 |
| 25619131 | Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the Ryr1(I4895T/wt) mouse model of core myopathy. | Biochemical and Biophysical Research Communications | 2015 |
| 25614869 | Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility. | Mol Genet Genomic Med | 2014 |
| 25418327 | Variably protease-sensitive prionopathy, a unique prion variant with inefficient transmission properties. | Emerging Infectious Diseases | 2014 |
| 23460944 | CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population. | Anesthesiology | 2013 |
| 23978697 | Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy. | Journal of Molecular Biology | 2013 |
| 23183335 | Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease. | Neuromuscular Disorders | 2013 |
| 22203976 | Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype. | Proceedings of the National Academy of Sciences of the United States of America | 2012 |
| 22913516 | Structural determination of the phosphorylation domain of the ryanodine receptor. | FEBS J | 2012 |
| 21697544 | Enhanced Ca2+ transport and muscle relaxation in skeletal muscle from sarcolipin-null mice. | Am J Physiol Cell Physiol | 2011 |
| 21118704 | Mechanistic models for muscle diseases and disorders originating in the sarcoplasmic reticulum. | | 2011 |
| 21149547 | Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum. | Journal of General Physiology | 2011 |
| 21455645 | Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population. | Canadian Journal of Anaesthesia | 2011 |
| 21454501 | Identification of novel ryanodine receptor 1 (RyR1) protein interaction with calcium homeostasis endoplasmic reticulum protein (CHERP). | J Biol Chem | 2011 |
| 20937869 | Constitutively active calcineurin induces cardiac endoplasmic reticulum stress and protects against apoptosis that is mediated by alpha-crystallin-B. | Proc Natl Acad Sci U S A | 2010 |
| 19959667 | Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods. | Proc Natl Acad Sci U S A | 2009 |
| 19139388 | Alterations of phospholamban function can exhibit cardiotoxic effects independent of excessive sarcoplasmic reticulum Ca2+-ATPase inhibition. | Circulation | 2009 |
| 19541610 | Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop. | Proceedings of the National Academy of Sciences of the United States of America | 2009 |
| 19567749 | Store overload-induced Ca2+ release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes. | Journal of Physiology | 2009 |
| 18378906 | Tbx5-dependent pathway regulating diastolic function in congenital heart disease. | Proc Natl Acad Sci U S A | 2008 |
| 18053795 | Interaction sites among phospholamban, sarcolipin, and the sarco(endo)plasmic reticulum Ca(2+)-ATPase. | Biochemical and Biophysical Research Communications | 2008 |
| 18056057 | Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses. | Mol Cell Proteomics | 2008 |
| 17172675 | Analyzing the cardiac muscle proteome by liquid chromatography-mass spectrometry-based expression proteomics. | Methods Mol Biol | 2007 |
| 17084242 | Cardiovascular proteomics: tools to develop novel biomarkers and potential applications. | J Am Coll Cardiol | 2006 |
| 16461894 | Cardiac-specific overexpression of sarcolipin in phospholamban null mice impairs myocyte function that is restored by phosphorylation. | Proc Natl Acad Sci U S A | 2006 |
| 16432188 | A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. | Proc Natl Acad Sci U S A | 2006 |
| 16595628 | Cardiac-specific elevations in thyroid hormone enhance contractility and prevent pressure overload-induced cardiac dysfunction. | Proc Natl Acad Sci U S A | 2006 |
| 16163667 | Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility. | Human Mutation | 2005 |
| 15824125 | Proteome dynamics during C2C12 myoblast differentiation. | Mol Cell Proteomics | 2005 |
| 15979338 | Multidimensional protein identification technology (MudPIT): technical overview of a profiling method optimized for the comprehensive proteomic investigation of normal and diseased heart tissue. | J Am Soc Mass Spectrom | 2005 |
| 15689621 | Ca2+ signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations. | Journal of Biological Chemistry | 2005 |
| 15226293 | Role of the sequence surrounding predicted transmembrane helix M4 in membrane association and function of the Ca(2+) release channel of skeletal muscle sarcoplasmic reticulum (ryanodine receptor isoform 1). | Journal of Biological Chemistry | 2004 |
| 15556994 | Sarcolipin retention in the endoplasmic reticulum depends on its C-terminal RSYQY sequence and its interaction with sarco(endo)plasmic Ca(2+)-ATPases. | Proc Natl Acad Sci U S A | 2004 |
| 15371420 | HSP70 binds to the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ -ATPase (SERCA1a) and prevents thermal inactivation. | J Biol Chem | 2004 |
| 16118852 | Interactions of the calcium ATPase with phospholamban and sarcolipin: structure, physiology and pathophysiology. | Journal of Muscle Research and Cell Motility | 2004 |
| 14982994 | Identification of biochemical adaptations in hyper- or hypocontractile hearts from phospholamban mutant mice by expression proteomics. | Proc Natl Acad Sci U S A | 2004 |
| 15201433 | Cardiac-specific overexpression of sarcolipin inhibits sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA2a) activity and impairs cardiac function in mice. | Proc Natl Acad Sci U S A | 2004 |
| 15175001 | Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release. | Biochem J | 2004 |
| 15133025 | Roles of conserved P domain residues and Mg2+ in ATP binding in the ground and Ca2+-activated states of sarcoplasmic reticulum Ca2+-ATPase. | Journal of Biological Chemistry | 2004 |
| 14987197 | Probing nucleotide-binding effects on backbone dynamics and folding of the nucleotide-binding domain of the sarcoplasmic/endoplasmic-reticulum Ca2+-ATPase. | Biochemical Journal | 2004 |
| 12637367 | Chronic SR Ca2+-ATPase inhibition causes adaptive changes in cellular Ca2+ transport. | Circulation Research | 2003 |
| 12556521 | Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice. | J Biol Chem | 2003 |
| 12525698 | Modeling of the inhibitory interaction of phospholamban with the Ca2+ ATPase. | Proceedings of the National Academy of Sciences of the United States of America | 2003 |
| 12610310 | Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. | Science | 2003 |
| 12838339 | Phospholamban: a crucial regulator of cardiac contractility. | Nature Reviews Molecular Cell Biology | 2003 |
| 12883402 | Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. | Anesthesiology | 2003 |
| 12883401 | Protocol for the sequence analysis of ryanodine receptor subtype 1 gene transcripts from human leukocytes. | Anesthesiology | 2003 |
| 12763867 | The regulation of SERCA-type pumps by phospholamban and sarcolipin. | Annals of the New York Academy of Sciences | 2003 |
| 12763781 | ATP binding residues of sarcoplasmic reticulum Ca2+-ATPase. | Annals of the New York Academy of Sciences | 2003 |