Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect

Non‐compaction cardiomyopathy is caused by a novel in‐frame desmin ( DES ) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect

(2019) Andrey V Marakhonov et al.   HUMAN MUTATION

In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns

(2019) Jana Davina Debus et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Acid Sensitive Ion channels are expressed in human induced pluripotent stem cell-derived cardiomyocytes

(2019) Xiao-hua Zhang et al.   STEM CELLS AND DEVELOPMENT

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers

(2019) Niraja Kedia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The novel αB-crystallin (CRYAB ) mutation p.D109G causes restrictive cardiomyopathy

(2017) Andreas Brodehl et al.   HUMAN MUTATION

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

(2017) Haruhito Harada et al.   JOURNAL OF HUMAN GENETICS

Kardiomiopatia restrykcyjna — nowa mutacja desminy

(2017) Natalia Ojrzyńska et al.   Kardiologia Polska

A novel desmin (DES ) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy

(2017) Ilona Schirmer et al.   Molecular Genetics & Genomic Medicine

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia

(2017) Francisco José Bermúdez-Jiménez et al.   CIRCULATION

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy

(2016) Andreas Brodehl et al.   HUMAN MUTATION

Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect

(2016) Andreas Brodehl et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Desmin, desminopathy and the complexity of genetics

(2016) Valerio Azzimato et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Intermediate Filaments: Structure and Assembly

(2016) Harald Herrmann et al.   Cold Spring Harbor Perspectives in Biology

Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing

(2016) Anna Kostareva et al.   PLoS One

Intermediate filament mechanics in vitro and in the cell: from coiled coils to filaments, fibers and networks

(2015) Sarah Köster et al.   CURRENT OPINION IN CELL BIOLOGY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Titin Mutation in Familial Restrictive Cardiomyopathy

(2013) Yael Peled et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

World Medical Association Declaration of Helsinki

(2013)   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy

(2013) A. Maerkens et al.   Journal of Proteomics

Dual Color Photoactivation Localization Microscopy of Cardiomyopathy-associated Desmin Mutants

(2012) Andreas Brodehl et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Diagnostic Challenge in Desmin Cardiomyopathy With Transformation of Clinical Phenotypes

(2012) Alexandra Gudkova et al.   PEDIATRIC CARDIOLOGY

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Atomic structure of the vimentin central  -helical domain and its implications for intermediate filament assembly

(2012) A. A. Chernyatina et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin

(2009) Gerard Piñol-Ripoll et al.   NEUROMUSCULAR DISORDERS

mRuby, a Bright Monomeric Red Fluorescent Protein for Labeling of Subcellular Structures

(2009) Simone Kredel et al.   PLoS One

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes

(2008) J P Kaski et al.   HEART

Severe Myopathy Mutations Modify the Nanomechanics of Desmin Intermediate Filaments

(2008) L. Kreplak et al.   JOURNAL OF MOLECULAR BIOLOGY