Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Nathalie Roux-Buisson; Marine Cacheux; Anne Fourest-Lieuvin; J. Fauconnier; Julie Brocard; Isabelle Denjoy; Philippe Durand; Pascale Guicheney; Florence Kyndt; Antoine Leenhardt; Hervé Le Marec; Vincent Lucet; Philippe Mabo; Vincent Probst; Nicole Monnier; Pierre F. Ray; Elodie Santoni; Pauline Trémeaux; Alain Lacampagne; Julien Fauré; Joël Lunardi; Isabelle Marty

doi:10.1093/hmg/dds104

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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Journal article

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Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.

Nathalie Roux-Buisson, Marine Cacheux, Anne Fourest-Lieuvin, J. Fauconnier, Julie Brocard, Isabelle Denjoy, Philippe Durand, Pascale Guicheney, Florence Kyndt, Antoine Leenhardt, …

Human Molecular Genetics, Vol.21(12), pp.2759-67

15/06/2012

DOI: https://doi.org/10.1093/hmg/dds104

PMID: 22422768

Abstract

Animals

Arrhythmias, Cardiac

Death, Sudden, Cardiac

Female

Mice, Knockout

Muscle Proteins

Genes, Recessive

Genetic Predisposition to Disease

Humans

Male

Mice

Mutation

Reverse Transcriptase Polymerase Chain Reaction

Tachycardia, Ventricular

Blotting, Western

Myocytes, Cardiac

Pedigree

Protein Isoforms

Rats

COS Cells

Endoplasmic Reticulum

Family Health

Calcium

Carrier Proteins

Cell Membrane

Cercopithecus aethiops

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Title: Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human.
Creators - without role: Nathalie Roux-Buisson - Grenoble Institute of Neurosciences
Marine Cacheux - Grenoble Institute of Neurosciences
Anne Fourest-Lieuvin - Université Joseph Fourier
J. Fauconnier - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Julie Brocard - Grenoble Institute of Neurosciences
Isabelle Denjoy - Hôpital Bichat-Claude-Bernard
Philippe Durand - Assistance Publique – Hôpitaux de Paris
Pascale Guicheney - Inserm
Florence Kyndt - Institut du Thorax
Antoine Leenhardt - Hôpital Bichat-Claude-Bernard
Hervé Le Marec - Institut du Thorax
Vincent Lucet - Unité de rythmologie pédiatrique
Philippe Mabo - Centre Hospitalier Universitaire de Rennes
Vincent Probst - Institut du Thorax
Nicole Monnier - Grenoble Institute of Neurosciences
Pierre F. Ray - Université Joseph Fourier
Elodie Santoni - Hôpital Albert Michallon
Pauline Trémeaux - Hôpital Albert Michallon
Alain Lacampagne - Université de Montpellier, Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Julien Fauré - Grenoble Institute of Neurosciences
Joël Lunardi - Grenoble Institute of Neurosciences
Isabelle Marty - Inserm
Publication Details: Human Molecular Genetics, Vol.21(12), pp.2759-67
Grant note: INSERM; Association Française contre les myopathies (AFM); CNRS; Fondation Daniel Ducoin; PHRC, DRC du CHU Grenoble; Société Française de Myologie (SFM);
Identifiers: 9944220509311
Academic Unit: Physiologie et Médecine Expérimentale du coeur et des muscles - PhyMedExp
Language: English
Resource Type: Journal article
Local Fields: inserm-00763211