MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes
出版年份 2020 全文链接
标题
MTMR4 SNVs modulate ion channel degradation and clinical severity in congenital long QT syndrome: insights in the mechanism of action of protective modifier genes
作者
关键词
-
出版物
CARDIOVASCULAR RESEARCH
Volume -, Issue -, Pages -
出版商
Oxford University Press (OUP)
发表日期
2020-01-22
DOI
10.1093/cvr/cvaa019
参考文献
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- From patient-specific induced pluripotent stem cells to clinical translation in long QT syndrome Type 2
- (2019) Peter J Schwartz et al. EUROPEAN HEART JOURNAL
- Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies
- (2019) Joseph C. Wu et al. CIRCULATION RESEARCH
- Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity
- (2018) Sam Chai et al. JOURNAL OF CLINICAL INVESTIGATION
- Physiological Functions of Nedd4-2: Lessons from Knockout Mouse Models
- (2018) Jantina A. Manning et al. TRENDS IN BIOCHEMICAL SCIENCES
- Identification of a targeted and testable antiarrhythmic therapy for long-QT syndrome type 2 using a patient-specific cellular model
- (2017) Ashish Mehta et al. EUROPEAN HEART JOURNAL
- Induced pluripotent stem cell technology: Toward the future of cardiac arrhythmias
- (2017) Massimiliano Gnecchi et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- The KCNH2 -IVS9-28A/G mutation causes aberrant isoform expression and hERG trafficking defect in cardiomyocytes derived from patients affected by Long QT Syndrome type 2
- (2017) Manuela Mura et al. INTERNATIONAL JOURNAL OF CARDIOLOGY
- NEDD4: The founding member of a family of ubiquitin-protein ligases
- (2015) Natasha Anne Boase et al. GENE
- Ion channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1
- (2015) Rosalie M. E. Meijer van Putten et al. Frontiers in Physiology
- The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy
- (2013) P. J. Schwartz et al. EUROPEAN HEART JOURNAL
- Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing
- (2013) Hung-Fat Tse et al. HUMAN MOLECULAR GENETICS
- A Phosphoinositide 3-Kinase (PI3K)-serum- and glucocorticoid-inducible Kinase 1 (SGK1) Pathway Promotes Kv7.1 Channel Surface Expression by Inhibiting Nedd4-2 Protein
- (2013) Martin Nybo Andersen et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Impact of Genetics on the Clinical Management of Channelopathies
- (2013) Peter J. Schwartz et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- The Unstoppable Attraction for Induced Pluripotent Stem Cells
- (2012) Massimiliano Gnecchi et al. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
- Directed cardiomyocyte differentiation from human pluripotent stem cells by modulating Wnt/β-catenin signaling under fully defined conditions
- (2012) Xiaojun Lian et al. Nature Protocols
- Maximum Diastolic Potential of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Depends Critically on IKr
- (2012) Michael Xavier Doss et al. PLoS One
- Nedd4-2-dependent ubiquitylation and regulation of the cardiac potassium channel hERG1
- (2011) Maxime Albesa et al. JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
- ROCK Inhibition Facilitates the Generation of Human-Induced Pluripotent Stem Cells in a Defined, Feeder-, and Serum-Free System
- (2010) Wing-Hon Lai et al. Cellular Reprogramming
- Regulation of voltage-gated ion channels in excitable cells by the ubiquitin ligases Nedd4 and Nedd4-2
- (2010) Daria Bongiorno et al. Channels
- Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation
- (2010) Annika Winbo et al. HEART RHYTHM
- The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4
- (2009) Pamela J. Plant et al. BIOCHEMICAL JOURNAL
- Prevalence of the Congenital Long-QT Syndrome
- (2009) Peter J. Schwartz et al. CIRCULATION
- Low Incidence of Sudden Cardiac Death in a Swedish Y111C Type 1 Long-QT syndrome Population
- (2009) Annika Winbo et al. Circulation-Cardiovascular Genetics
- Long QT Syndrome–Associated Mutations in KCNQ1 and KCNE1 Subunits Disrupt Normal Endosomal Recycling of I Ks Channels
- (2008) Guiscard Seebohm et al. CIRCULATION RESEARCH
- LQT1-associated Mutations Increase KCNQ1 Proteasomal Degradation Independently of Derlin-1
- (2008) David Peroz et al. JOURNAL OF BIOLOGICAL CHEMISTRY
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