|
1
|
Schwartz PJ, Stramba-Badiale M, Crotti L,
et al: Prevalence of the congenital long-QT syndrome. Circulation.
120:1761–1767. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Tester DJ and Ackerman MJ: Genetic testing
for potentially lethal, highly treatable inherited
cardiomyopathies/channelopathies in clinical practice. Circulation.
123:1021–1037. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Hedley PL, Jørgensen P, Schlamowitz S, et
al: The genetic basis of long QT and short QT syndromes: A mutation
update. Hum Mutat. 30:1486–1511. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Yang Y, Yang Y, Liang B, et al:
Identification of a Kir3.4 mutation in congenital long QT syndrome.
Am J Hum Genet. 86:872–880. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Cerrone M, Napolitano C and Priori SG:
Genetics of ion-channel disorders. Curr Opin Cardiol. 27:242–252.
2012. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Tester DJ, Will ML, Haglund CM and
Ackerman MJ: Compendium of cardiac channel mutations in 541
consecutive unrelated patients referred for long QT syndrome
genetic testing. Heart Rhythm. 2:507–517. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
7
|
Schwartz PJ, Crotti L and Insolia R:
Long-QT syndrome: From genetics to management. Circ Arrhythm
Electrophysiol. 5:868–877. 2012. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Zarzoso M and Noujaim SF: Mission
possible: RNA interference rescues the hERG current. Heart Rhythm.
10:137–138. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Grimm D and Kay MA: RNAi and gene therapy:
A mutual attraction. Hematology (Am Soc Hematol Educ Program).
473–481. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Seyhan AA: RNAi: A potential new class of
therapeutic for human genetic disease. Hum Genet. 130:583–605.
2011. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Zhang A, Sun C, Zhang L, et al: L539
fs/47, a truncated mutation of human ether-a-go-go-related gene
(hERG), decreases hERG ion channel currents in HEK 293 cells. Clin
Exp Pharmacol Physiol. 40:28–36. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Delisle BP, Anson BD, Rajamani S and
January CT: Biology of cardiac arrhythmias: Ion channel protein
trafficking. Circ Res. 94:1418–1428. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Thomas D, Kiehn J, Katus HA and Karle CA:
Defective protein trafficking in hERG-associated hereditary long QT
syndrome (LQT2): Molecular mechanisms and restoration of
intracellular protein processing. Cardiovasc Res. 60:235–241. 2003.
View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Anderson CL, Delisle BP, Anson BD, et al:
Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2
(trafficking-deficient) mechanism. Circulation. 113:365–373. 2006.
View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Castanotto D and Rossi JJ: The promises
and pitfalls of RNA-interference-based therapeutics. Nature.
457:426–433. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Petrocca F and Lieberman J: Promise and
challenge of RNA interference-based therapy for cancer. J Clin
Oncol. 29:747–754. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Davidson BL and McCray PB Jr: Current
prospects for RNA interference-based therapies. Nat Rev Genet.
12:329–340. 2011. View
Article : Google Scholar : PubMed/NCBI
|
|
18
|
Suckau L, Fechner H, Chemaly E, et al:
Long-term cardiac-targeted RNA interference for the treatment of
heart failure restores cardiac function and reduces pathological
hypertrophy. Circulation. 119:1241–1252. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Poller W, Tank J, Skurk C and Gast M:
Cardiovascular RNA interference therapy: The broadening tool and
target spectrum. Circ Res. 113:588–602. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Lu X, Yang X, Huang X, et al: RNA
interference targeting E637K mutation rescues hERG channel currents
and restores its kinetic properties. Heart Rhythm. 10:128–136.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
Sanguinetti MC and Tristani-Firouzi M:
hERG potassium channels and cardiac arrhythmia. Nature.
440:463–469. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Iwai C, Li P, Kurata Y, et al: Hsp90
prevents interaction between CHIP and HERG proteins to facilitate
maturation of wild-type and mutant HERG proteins. Cardiovasc Res.
100:520–528. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Curran ME, Splawski I, Timothy KW, Vincent
GM, Green ED and Keating MT: A molecular-basis for
cardiac-arrhythmia: HERG mutations cause long QT syndrome. Cell.
80:795–803. 1995. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Gong Q, Zhang L, Vincent GM, Horne BD and
Zhou Z: Nonsense mutations in hERG cause a decrease in mutant mRNA
transcripts by nonsense-mediated mRNA decay in human long-QT
syndrome. Circulation. 116:17–24. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Ficker E, Dennis AT, Obejero-Paz CA,
Castaldo P, Taglialatela M and Brown AM: Retention in the
endoplasmic reticulum as a mechanism of dominant-negative current
suppression in human long QT syndrome. J Mol Cell Cardiol.
32:2327–2337. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Poller W, Hajjar R, Schultheiss HP and
Fechner H: Cardiac-targeted delivery of regulatory RNA molecules
and genes for the treatment of heart failure. Cardiovasc Res.
86:353–364. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Denovan-Wright EM and Davidson BL: RNAi: A
potential therapy for the dominantly inherited nucleotide repeat
diseases. Gene Ther. 13:525–531. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Judge AD, Robbins M, Tavakoli I, et al:
Confirming the RNAi-mediated mechanism of action of siRNA-based
cancer therapeutics in mice. J Clin Invest. 119:661–673. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Fitzgerald K, Frank-Kamenetsky M,
Shulga-Morskaya S, et al: Effect of an RNA interference drug on the
synthesis of proprotein convertase subtilisin/kexin type 9 (PCSK9)
and the concentration of serum LDL cholesterol in healthy
volunteers: A randomised, single-blind, placebo-controlled, phase 1
trial. Lancet. 383:60–68. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Fire A, Xu S, Montgomery MK, Kostas SA,
Driver SE and Mello CC: Potent and specific genetic interference by
double-stranded RNA in Caenorhabditis elegans. Nature. 391:806–811.
1998. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Bumcrot D, Manoharan M, Koteliansky V and
Sah DWY: RNAi therapeutics: A potential new class of pharmaceutical
drugs. Nat Chem Biol. 2:711–719. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
32
|
Almaça J, Faria D, Sousa M, et al:
High-content siRNA screen reveals global ENaC regulators and
potential cystic fibrosis therapy targets. Cell. 154:1390–1400.
2013. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Kanasty R, Dorkin JR, Vegas A and Anderson
D: Delivery materials for siRNA therapeutics. Nat Mater.
12:967–977. 2013. View
Article : Google Scholar : PubMed/NCBI
|
|
34
|
Coelho T, Adams D, Silva A, et al: Safety
and efficacy of RNAi therapy for transthyretin amyloidosis. N Engl
J Med. 369:819–829. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Wallace LM, Garwick SE and Harper SQ: RNAi
therapy for dominant muscular dystrophies and other myopathies.
Muscle Gene Ther. 99–115. 2010. View Article : Google Scholar
|
|
36
|
Hayashi K, Shimizu M, Ino H, et al:
Characterization of a novel missense mutation E637K in the pore-S6
loop of HERG in a patient with long QT syndrome. Cardiovasc Res.
54:67–76. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Matsa E, Dixon JE, Medway C, et al:
Allele-specific RNA interference rescues the long-QT syndrome
phenotype in human-induced pluripotency stem cell cardiomyocyte.
Eur Heart J. 35:1078–1087. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Meng S and Tian Y: Cell reprogramming: The
revolutionary breakthrough in regenerative medicine
research-written on the occasion of the 2012 nobel prize in
physiology or medicine issued. Prog Biochem Biophys. 39:1061–1065.
2012. View Article : Google Scholar
|
|
39
|
Takahashi K and Yamanaka S: Induction of
pluripotent stem cells from mouse embryonic and adult fibroblast
cultures by defined factors. Cell. 126:663–676. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Hockemeyer D, Soldner F, Beard C, et al:
Efficient targeting of expressed and silent genes in human ESCs and
iPSCs using zinc-finger nucleases. Nat Biotechnol. 27:851–857.
2009. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Zou J, Maeder ML, Mali P, et al: Gene
targeting of a disease-related gene in human induced pluripotent
stem and embryonic stem cells. Cell Stem Cell. 5:97–110. 2009.
View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Itzhaki I, Maizels L, Huber I, et al:
Modelling the long QT syndrome with induced pluripotent stem cells.
Nature. 471:225–229. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Malan D, Friedrichs S, Fleischmann BK and
Sasse P: Cardiomyocytes obtained from induced pluripotent stem
cells with long-QT syndrome 3 recapitulate typical disease-specific
features in vitro. Circ Res. 109:841–847. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Moretti A, Bellin M, Welling A, et al:
Patient-specific induced pluripotent stem-cell models for long-QT
Syndrome. N Engl J Med. 363:1397–1409. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Leonard JN and Schaffer DV: Antiviral RNAi
therapy: Emerging approaches for hitting a moving target. Gene
Ther. 13:532–540. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Boudreau RL, Spengler RM and Davidson BL:
Rational design of therapeutic siRNAs: Minimizing off-targeting
potential to improve the safety of RNAi therapy for Huntington's
disease. Mol Ther. 19:2169–2177. 2011. View Article : Google Scholar : PubMed/NCBI
|
