The Sarcomeric Z-Disc and Z-Discopathies

Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

(2011) Nadine Norton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations

(2011) Pernilla von Nandelstadh et al.   BIOCHEMICAL JOURNAL

Autophagy and p62 in Cardiac Proteinopathy

(2011) Qingwen Zheng et al.   CIRCULATION RESEARCH

Telethonin Deficiency Is Associated With Maladaptation to Biomechanical Stress in the Mammalian Heart

(2011) Ralph Knöll et al.   CIRCULATION RESEARCH

A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy

(2011) Eric Villard et al.   EUROPEAN HEART JOURNAL

Towards a re-definition of ‘cardiac hypertrophy’ through a rational characterization of left ventricular phenotypes: a position paper of the Working Group ‘Myocardial Function’ of the ESC

(2011) Ralph Knöll et al.   EUROPEAN JOURNAL OF HEART FAILURE

Cardiac Z-disc Signaling Network

(2011) Derk Frank et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Telethonin-deficiency initially presenting as a congenital muscular dystrophy

(2011) Ana Ferreiro et al.   NEUROMUSCULAR DISORDERS

MLP (muscle LIM protein) as a stress sensor in the heart

(2011) Byambajav Buyandelger et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Loss of Enigma Homolog Protein Results in Dilated Cardiomyopathy

(2010) Hongqiang Cheng et al.   CIRCULATION RESEARCH

A Common MLP (Muscle LIM Protein) Variant Is Associated With Cardiomyopathy

(2010) Ralph Knöll et al.   CIRCULATION RESEARCH

Sent to Destroy

(2010) Monte S. Willis et al.   CIRCULATION RESEARCH

Common Variants in HSPB7 and FRMD4B Associated With Advanced Heart Failure

(2010) Thomas P. Cappola et al.   Circulation-Cardiovascular Genetics

Successful acute and long-term management of electrical storm in Brugada syndrome using orciprenaline and quinine/quinidine

(2010) Patrick A. Schweizer et al.   Clinical Research in Cardiology

Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance

(2010) Verena Arndt et al.   CURRENT BIOLOGY

Nebulin, a major player in muscle health and disease

(2010) Siegfried Labeit et al.   FASEB JOURNAL

Desmin mutations as a cause of right ventricular heart failure affect the intercalated disks

(2010) Ellen Otten et al.   HEART RHYTHM

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

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

Modulation of Muscle Atrophy, Fatigue and MLC Phosphorylation by MuRF1 as Indicated by Hindlimb Suspension Studies on MuRF1-KO Mice

(2010) Siegfried Labeit et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Z-Disc Genes in Hypertrophic Cardiomyopathy

(2010) J. Martijn Bos et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Familial Reducing Body Myopathy with Cytoplasmic Bodies and Rigid Spine Revisited: Identification of a Second LIM Domain Mutation in FHL1

(2010) J. Schessl et al.   NEUROPEDIATRICS

Genetic Association Study Identifies HSPB7 as a Risk Gene for Idiopathic Dilated Cardiomyopathy

(2010) Klaus Stark et al.   PLoS Genetics

Protein kinase C: poised to signal

(2009) Alexandra C. Newton   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Melusin gene (ITGB1BP2) nucleotide variations study in hypertensive and cardiopathic patients

(2009) Valeria Palumbo et al.   BMC Medical Genetics

Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1

(2009) Joachim Schessl et al.   BRAIN

Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere–membrane interaction, not sarcomere assembly

(2009) Ruilin Zhang et al.   HUMAN MOLECULAR GENETICS

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease

(2009) Scot J. Matkovich et al.   JOURNAL OF CLINICAL INVESTIGATION

Myocyte remodeling in response to hypertrophic stimuli requires nucleocytoplasmic shuttling of muscle LIM protein

(2009) Samuel Y. Boateng et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

The vertebrate muscle Z-disc: sarcomere anchor for structure and signalling

(2009) Pradeep K. Luther   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy

(2009) Christine Chiu et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Muscle Lim Protein Interacts with Cofilin 2 and Regulates F-Actin Dynamics in Cardiac and Skeletal Muscle

(2009) V. Papalouka et al.   MOLECULAR AND CELLULAR BIOLOGY

The ALP-Enigma Protein ALP-1 Functions in Actin Filament Organization to Promote Muscle Structural Integrity in Caenorhabditis elegans

(2009) Hsiao-Fen Han et al.   MOLECULAR BIOLOGY OF THE CELL

Integrin-linked kinase is an adaptor with essential functions during mouse development

(2009) Anika Lange et al.   NATURE

The titin-telethonin complex is a directed, superstable molecular bond in the muscle Z-disk

(2009) M. Bertz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ALP/Enigma PDZ-LIM Domain Proteins in the Heart

(2009) M. Zheng et al.   Journal of Molecular Cell Biology

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1

(2008) Catarina M. Quinzii et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An X-Linked Myopathy with Postural Muscle Atrophy and Generalized Hypertrophy, Termed XMPMA, Is Caused by Mutations in FHL1

(2008) Christian Windpassinger et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

The ubiquitin–proteasome system in cardiac dysfunction

(2008) Giulia Mearini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Proapoptotic protein Siva binds to the muscle protein telethonin in cardiomyocytes during coxsackieviral infection

(2008) K. Mihatsch et al.   CARDIOVASCULAR RESEARCH

Zebrafish integrin-linked kinase is required in skeletal muscles for strengthening the integrin–ECM adhesion complex

(2008) Ruben Postel et al.   DEVELOPMENTAL BIOLOGY

Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death

(2008) M. Zheng et al.   HUMAN MOLECULAR GENETICS

A Mutation in Telethonin Alters Nav1.5 Function

(2008) Amelia Mazzone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cell Adhesion-dependent Cofilin Serine 3 Phosphorylation by the Integrin-linked Kinase·c-Src Complex

(2008) Yong-Bae Kim et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

HDAC4 and PCAF Bind to Cardiac Sarcomeres and Play a Role in Regulating Myofilament Contractile Activity

(2008) Mahesh P. Gupta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Proteomic identification of FHL1 as the protein mutated in human reducing body myopathy

(2008) Joachim Schessl et al.   JOURNAL OF CLINICAL INVESTIGATION

An FHL1-containing complex within the cardiomyocyte sarcomere mediates hypertrophic biomechanical stress responses in mice

(2008) Farah Sheikh et al.   JOURNAL OF CLINICAL INVESTIGATION

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

(2008) Montse Olivé et al.   NEUROMUSCULAR DISORDERS