Explanipedia

Generation of a FAM189A2/ENTREP1 knockout human induced pluripotent stem cell line using CRISPR/Cas9 technology Open

Sibylle Marteau, Laëtitia Duboscq-Bidot, Takanori Aizawa, Matthieu Hamlin, Eric Villard , et al. · 2025

FAM189A2/ENTREP1 encodes a transmembrane protein, EREP1, ubiquitously expressed, with higher levels in thyroid gland, skeletal muscle, heart and glial cells, suggesting tissue-specific roles. It is regulated in various cancers and genetic …

Gene Therapy with the N-terminal Fragment of Nav1.5 for Cardiac Channelopathies: A Novel Transcomplementation Mechanism Potentiating the Cardiac Sodium Current Open

Marie Gizon, M Ferrand, Vincent Fontaine, Nathalie Mougenot, Pierre-Léo Laporte , et al. · 2024

BACKGROUND Cardiac channelopathies, caused by mutations in ion-channel genes, can lead to sudden cardiac death (SCD) via ventricular arrhythmias. Brugada syndrome (BrS) is a rare inherited channelopathy characterized by a unique ECG patter…

Trafficking and Gating Cooperation Between Deficient Nav1.5-mutant Channels to Rescue INa Open

Jérôme Clatot, Alain Coulombe, Isabelle Deschênes, Pascale Guicheney, Nathalie Neyroud · 2022

Background: Pathogenic variants in SCN5A, the gene encoding the cardiac Na+ channel α-subunit Nav1.5, result in life-threatening arrhythmias, e.g., Brugada syndrome, cardiac conduction defects and long QT syndrome. This variety of phenotyp…

The role of the M-band myomesin proteins in muscle integrity and cardiac disease Open

Ekaterina P. Lamber, Pascale Guicheney, Nikos Pinotsis · 2022

A Type 2 Ryanodine Receptor Variant in the Helical Domain 2 Associated with an Impairment of the Adrenergic Response Open

Malorie Blancard, Zahia Touat-Hamici, Yuriana Aguilar-Sánchez, Liheng Yin, Guy Vaksmann , et al. · 2021

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is triggered by exercise or acute emotion in patients with normal resting electrocardiogram. The major disease-causing gene is RYR2, encoding the cardiac ryanodine receptor (RyR2…

In vivo Dominant-Negative Effect of an SCN5A Brugada Syndrome Variant Open

Nicolas Doisne, Marta Grauso, Nathalie Mougenot, Michel Clergue, Charlotte Souil , et al. · 2021

Loss-of-function mutations in the cardiac Na + channel α-subunit Na v 1.5, encoded by SCN5A , cause Brugada syndrome (BrS), a hereditary disease characterized by sudden cardiac death due to ventricular fibrillation. We previously evidenced…

A SPRY1 domain cardiac ryanodine receptor variant associated with short-coupled torsade de pointes Open

Zahia Touat-Hamici, Malorie Blancard, Ruifang Ma, Lianyun Lin, Yasmine Iddir , et al. · 2021

Idiopathic ventricular fibrillation (IVF) causes sudden death in young adult patients without structural or ischemic heart disease. Most IVF cases are sporadic and some patients present with short-coupled torsade de pointes, the genetics o…

Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies Open

Jérôme Clatot, Nathalie Neyroud, R. H. Cox, Charlotte Souil, Jing Huang , et al. · 2020

Background: Genetic variants in voltage-gated sodium channels (Nav) encoded by SCNXA genes, responsible for INa, and Kv4.3 channels encoded by KCND3, responsible for the transient outward current (Ito), contribute to the manifestation of b…

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome Open

Najim Lahrouchi, Rafik Tadros, Lia Crotti, Yuka Mizusawa, Pieter G. Postema , et al. · 2020

Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positi…

Correlative SICM‐FCM reveals changes in morphology and kinetics of endocytic pits induced by disease‐associated mutations in dynamin Open

Tayyibah Ali, Joanna Bednarska, Stéphane Vassilopoulos, Martin Tran, Ivan Diakonov , et al. · 2019

Dynamin 2 (DNM2) is a GTP‐binding protein that controls endocytic vesicle scission and defines a whole class of dynamin‐dependent endocytosis, including clathrin‐mediated endocytosis by caveoli. It has been suggested that mutations in the …

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle Open

Agathe Franck, Jeanne Lainé, Gilles Moulay, Eline Lemerle, Michaël Trichet , et al. · 2019

Clathrin plaques are stable features of the plasma membrane observed in several cell types. They are abundant in muscle, where they localize at costameres that link the contractile apparatus to the sarcolemma and connect the sarcolemma to …

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation Open

Malorie Blancard, Amal Debbiche, Koichi Kato, Christelle Cardin, Guichard Sabrina , et al. · 2018

Mechanosensitive clathrin platforms anchor desmin intermediate filaments in skeletal muscle Open

Agathe Franck, Jeanne Lainé, Gilles Moulay, Michaël Trichet, Christel Gentil , et al. · 2018

Large flat clathrin plaques are stable features of the plasma membrane associated with sites of strong adhesion suggesting that they could also play a role in force transduction. Here, we analyzed how clathrin plaques interact with the cyt…

P128Recovery of Scn5a-deficient mice cardiac conduction using AAVs Open

Nicolas Doisne, M Grauso-Culetto, Nathalie Mougenot, Michel Clergue, L Fossé , et al. · 2018

International audience

Allele‐specific silencing therapy for Dynamin 2‐related dominant centronuclear myopathy Open

Delphine Trochet, Bernard Prudhon, Maud Beuvin, Cécile Peccate, Stéphanie Lorain , et al. · 2017

Impaired excitation–contraction coupling in muscle fibres from the dynamin2R465W mouse model of centronuclear myopathy Open

Candice Kutchukian, Péter Szentesi, Bruno Allard, Delphine Trochet, Maud Beuvin , et al. · 2017

Key points Dynamin 2 is a ubiquitously expressed protein involved in membrane trafficking processes. Mutations in the gene encoding dynamin 2 are responsible for a congenital myopathy associated with centrally located nuclei in the muscle …

Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cells Open

Arlek M. González‐Jamett, Ximena Báez‐Matus, Mai Thao Bui, Pascale Guicheney, Norma B. Romero , et al. · 2017

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells Open

Arlek M. González‐Jamett, Ximena Báez‐Matus, María José Olivares, Fernando Hinostroza, María José Guerra Palmero , et al. · 2017

Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopat…

Calcium homeostasis alterations in a mouse model of the Dynamin 2-related centronuclear myopathy Open

B. Fraysse, Pascale Guicheney, Marc Bitoun · 2016

Autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by centrally located nuclei in muscle fibers. CNM results from mutations in the gene encoding dynamin 2 (DNM2), a large GTPase involved in endocyto…

A type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia Open

Yusuke Fujii, Hideki Itoh, Seiko Ohno, Takashi Murayama, Nagomi Kurebayashi , et al. · 2016

Control of Rhythm and Rate278Cx43 hemichannels in ventricular cardiomyocytes can be activated by an elevation of cytoplasmic Ca2+ through a CaM-dependent signaling cascade and are a potent contributor to cardiac arrhythmogenesis279Exploration of the dominant-negative effect of a SCN5A mutation in mice using adeno-associated viruses280Modeling susceptibility to drug-induced long qt syndrome with a panel of subject-specific induced pluripotent stem cells Open

Maarten De Smet, Nicolas Doisne, Francesca Stillitano, Alessio Lissoni, N Wang , et al. · 2016

Introduction and purpose: Cx43, most abundantly expressed in the ventricles, is engaged in forming both gap junctions that electrically couple the cardiac tissue and unapposed hemichannels (HCs) that function as a non-selective tran…

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis Open

Erik Schoenmakers, Bradley A. Carlson, Maura Agostini, Carla Moran, Odelia Rajanayagam , et al. · 2016

Selenium is a trace element that is essential for human health and is incorporated into more than 25 human selenocysteine-containing (Sec-containing) proteins via unique Sec-insertion machinery that includes a specific, nuclear genome-enco…

The genetics underlying acquired long QT syndrome: impact for genetic screening Open

Hideki Itoh, Lia Crotti, Takeshi Aiba, Carla Spazzolini, Isabelle Denjoy , et al. · 2015

A third of aLQTS patients carry cLQTS mutations, those on KCNH2 being more common. The probability of being a carrier of cLQTS disease-causing mutations can be predicted by simple clinical parameters, thus allowing possibly cost-effective …

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction Open

Hideki Itoh, Myriam Berthet, Véronique Fressart, Isabelle Denjoy, Svetlana Maugenre , et al. · 2015

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study Open

Elijah R. Behr, Eleonora Savio‐Galimberti, Julien Barc, Anders G. Holst, Evmorfia Petropoulou , et al. · 2015

Rare variants in the screened QRS-associated genes (including SCN10A) are not responsible for a significant proportion of SCN5A mutation negative BrS. The common SNP SCN10A V1073 was strongly associated with BrS and demonstrated loss of Na…

A Common Mutation of Long QT Syndrome Type 1 in Japan Open

Hideki Itoh, Kenichi Dochi, Wataru Shimizu, Isabelle Denjoy, Seiko Ohno , et al. · 2015

The A344spl mutation was a frequent LQTS genotype in Japan, which indicates that the influence of country-specific hot spots should be considered when studying LQT1 clinical phenotypes.

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