List of works - Andreas Brodehl

A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy

scientific article published on 19 March 2020

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

scientific article published on 23 December 2017

Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin

scientific article

Cardiomyopathy associated mutations in the RS domain affect nuclear localization of RBM20

scientific article published on 25 August 2020

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

scientific article

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

scientific article published on 29 March 2020

Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes

scientific article published on 28 November 2020

Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants

scientific article

FLNC (Filamin-C): A New(er) Player in the Field of Genetic Cardiomyopathies.

scientific article published in December 2017

Functional analysis of DES-p.L398P and RBM20-p.R636C

scientific article published on 28 September 2018

Functional characterization of desmin mutant p.P419S.

scientific article published on 3 October 2012

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

scientific journal article

Functional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathy

scientific article published on 08 February 2017

Genetic Animal Models for Arrhythmogenic Cardiomyopathy

scientific article published on 24 June 2020

Heat shock protein 27 modification is increased in the human diabetic failing heart

scientific article (publication date: August 2009)

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies

scientific article published on 06 September 2019

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

scientific article published on 15 March 2019

Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites

scientific article published on 03 April 2019

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

scientific article published on 20 June 2018

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

scientific article

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy

scientific article published on 15 February 2019

Noncompaction 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

scientific article published on 03 April 2019

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

scientific article published on 11 November 2019

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

article

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

scientific article published on 6 December 2017

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death

scientific journal article

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

scientific article

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling

scientific article

List of works by Andreas Brodehl

A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy

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

Apertureless scanning near-field optical microscopy of sparsely labeled tobacco mosaic viruses and the intermediate filament desmin

Cardiomyopathy associated mutations in the RS domain affect nuclear localization of RBM20

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

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction

Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes

Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants

FLNC (Filamin-C): A New(er) Player in the Field of Genetic Cardiomyopathies.

Functional analysis of DES-p.L398P and RBM20-p.R636C

Functional characterization of desmin mutant p.P419S.

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

Functional studies can contribute to predict the pathogenicity of a novel mutation for cardiomyopathy

Genetic Animal Models for Arrhythmogenic Cardiomyopathy

Heat shock protein 27 modification is increased in the human diabetic failing heart

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies

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

Incorporation of desmocollin-2 into the plasma membrane requires N-glycosylation at multiple sites

Molecular insights into cardiomyopathies associated with desmin (DES) mutations

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy

Noncompaction 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

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

Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?

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

The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death

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

Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling