Diverse molecular mechanisms underlying pathogenic protein mutations: beyond the loss-of-function paradigm
L Backwell, JA Marsh - Annual review of genomics and human …, 2022 - annualreviews.org
Most known disease-causing mutations occur in protein-coding regions of DNA. While some
of these involve a loss of protein function (eg, through premature stop codons or missense …
of these involve a loss of protein function (eg, through premature stop codons or missense …
Inherited Dysfunction of Sarcoplasmic Reticulum Ca2+ Handling and Arrhythmogenesis
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited
arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is …
arrhythmogenic disease occurring in patients with a structurally normal heart: the disease is …
Novel calmodulin mutations associated with congenital arrhythmia susceptibility
N Makita, N Yagihara, L Crotti… - Circulation …, 2014 - Am Heart Assoc
Background—Genetic predisposition to life-threatening cardiac arrhythmias such as
congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular …
congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular …
SERCA2a gene transfer decreases sarcoplasmic reticulum calcium leak and reduces ventricular arrhythmias in a model of chronic heart failure
AR Lyon, ML Bannister, T Collins… - Circulation …, 2011 - Am Heart Assoc
Background—Sarcoplasmic reticulum calcium ATPase 2a (SERCA2a) gene therapy
improves mechanical function in heart failure and is under evaluation in a clinical trial. A …
improves mechanical function in heart failure and is under evaluation in a clinical trial. A …
ESC working group on cardiac cellular electrophysiology position paper: relevance, opportunities, and limitations of experimental models for cardiac electrophysiology …
Cardiac arrhythmias are a major cause of death and disability. A large number of
experimental cell and animal models have been developed to study arrhythmogenic …
experimental cell and animal models have been developed to study arrhythmogenic …
Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor
H Uchinoumi, M Yano, T Suetomi, M Ono, X Xu… - Circulation …, 2010 - Am Heart Assoc
Rationale: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is caused by a
single point mutation in a well-defined region of the cardiac type 2 ryanodine receptor (RyR) …
single point mutation in a well-defined region of the cardiac type 2 ryanodine receptor (RyR) …
[HTML][HTML] The Purkinje–myocardial junction is the anatomic origin of ventricular arrhythmia in CPVT
DJ Blackwell, M Faggioni, MJ Wleklinski… - JCI insight, 2022 - ncbi.nlm.nih.gov
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmia syndrome
caused by gene mutations that render RYR2 Ca release channels hyperactive, provoking …
caused by gene mutations that render RYR2 Ca release channels hyperactive, provoking …
Induced pluripotent stem cells in cardiovascular drug discovery
The unexpected discovery that somatic cells can be reprogrammed to a pluripotent state
yielding induced pluripotent stem cells has made it possible to produce cardiovascular cells …
yielding induced pluripotent stem cells has made it possible to produce cardiovascular cells …
High throughput measurement of Ca2+ dynamics for drug risk assessment in human stem cell-derived cardiomyocytes by kinetic image cytometry
F Cerignoli, D Charlot, R Whittaker… - … of pharmacological and …, 2012 - Elsevier
Current methods to measure physiological properties of cardiomyocytes and predict fatal
arrhythmias that can cause sudden death, such as Torsade de Pointes, lack either the …
arrhythmias that can cause sudden death, such as Torsade de Pointes, lack either the …
Abnormal Termination of Ca2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies
Y Tang, X Tian, R Wang, M Fill, SRW Chen - Circulation research, 2012 - Am Heart Assoc
Rationale: Naturally occurring mutations in the cardiac ryanodine receptor (RyR2) have
been associated with both cardiac arrhythmias and cardiomyopathies. It is clear that delayed …
been associated with both cardiac arrhythmias and cardiomyopathies. It is clear that delayed …