Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins. (Q38832827)

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4 April 2020

review article

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title

Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171814%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171814%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

Marie-Louise Bang

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6 September 2017

publication date

2 June 2016

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Journal of Cellular Physiology

4 April 2020

published in

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4 April 2020

volume

232

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4 April 2020

issue

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4 April 2020

page(s)

38-52

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HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

4 April 2020

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MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure

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Structural analysis of four and half LIM protein-2 in dilated cardiomyopathy.

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Dilated cardiomyopathy-associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes

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Mutations in PDLIM3 and MYOZ1 encoding myocyte Z line proteins are infrequently found in idiopathic dilated cardiomyopathy

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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden death

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Analysis of the Z-disc genes PDLIM3 and MYPN in patients with hypertrophic cardiomyopathy.

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Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies

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Integrin-linked kinase, a novel component of the cardiac mechanical stretch sensor, controls contractility in the zebrafish heart

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Cardiac dysfunction and heart failure are associated with abnormalities in the subcellular distribution and amounts of oligomeric muscle LIM protein

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

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Selective deletion of long but not short Cypher isoforms leads to late-onset dilated cardiomyopathy.

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Myofibrillar instability exacerbated by acute exercise in filaminopathy.

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FHL2 (SLIM3) is not essential for cardiac development and function

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Shortening of the elastic tandem immunoglobulin segment of titin leads to diastolic dysfunction

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Pluripotent stem cell models of cardiac disease and their implication for drug discovery and development

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Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy

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Alterations at the intercalated disk associated with the absence of muscle LIM protein

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Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

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Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling

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FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle

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ZASP: a new Z-band alternatively spliced PDZ-motif protein

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Cardiac Z-disc Signaling Network

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The sarcomeric Z-disc: a nodal point in signalling and disease

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Calsarcin-1 protects against angiotensin-II induced cardiac hypertrophy

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Combination of genetic screening and molecular dynamics as a useful tool for identification of disease-related mutations: ZASP PDZ domain G54S mutation case

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Mice lacking calsarcin-1 are sensitized to calcineurin signaling and show accelerated cardiomyopathy in response to pathological biomechanical stress

21 January 2018

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Hypertrophy of the heart: a new therapeutic target?

21 January 2018

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Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins

21 January 2018

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Calsarcins, a novel family of sarcomeric calcineurin-binding proteins

21 January 2018

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Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy

21 January 2018

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Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy

21 January 2018

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"MLP: A Stress Sensor Goes Nuclear" by Sylvia Gunkel, Jörg Heineke, Denise Hilfiker-Kleiner, Ralph Knöll, J Mol Cell Cardiol. 2009;47(4):423-5.

21 January 2018

1 reference

Back to square one: what do we know about the functions of muscle LIM protein in the heart?

21 January 2018

1 reference

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

21 January 2018

1 reference

Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy

21 January 2018

1 reference

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

21 January 2018

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

21 January 2018

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Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure

21 January 2018

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Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease.

21 January 2018

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Deleting titin's I-band/A-band junction reveals critical roles for titin in biomechanical sensing and cardiac function

21 January 2018

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Truncation of titin's elastic PEVK region leads to cardiomyopathy with diastolic dysfunction

21 January 2018

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Zaspopathy in a large classic late-onset distal myopathy family

21 January 2018

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MLP: a stress sensor goes nuclear.

21 January 2018

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HDAC4 and PCAF bind to cardiac sarcomeres and play a role in regulating myofilament contractile activity

21 January 2018

1 reference

α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.

21 January 2018

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Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy

21 January 2018

1 reference

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

21 January 2018

1 reference

Attenuation of cardiac remodeling after myocardial infarction by muscle LIM protein-calcineurin signaling at the sarcomeric Z-disc

21 January 2018

1 reference

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

21 January 2018

1 reference

Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy

21 January 2018

1 reference

HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

21 January 2018

1 reference

Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments

21 January 2018

1 reference

Nebulette interacts with filamin C

21 January 2018

1 reference

BAG3 deficiency results in fulminant myopathy and early lethality

21 January 2018

1 reference

Characterization and in vivo functional analysis of splice variants of cypher

21 January 2018

1 reference

Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy

21 January 2018

1 reference

Structural changes in muscle during contraction; interference microscopy of living muscle fibres

21 January 2018

1 reference

Changes in the cross-striations of muscle during contraction and stretch and their structural interpretation

21 January 2018

1 reference

Titin mutations as the molecular basis for dilated cardiomyopathy

21 January 2018

1 reference

Actinin-associated LIM protein-deficient mice maintain normal development and structure of skeletal muscle

21 January 2018

1 reference

Genetics of dilated cardiomyopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

Hearts of surviving MLP-KO mice show transient changes of intracellular calcium handling

21 January 2018

1 reference

Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs

21 January 2018

1 reference

Mutations in sarcomere protein genes in left ventricular noncompaction

21 January 2018

1 reference

The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

21 January 2018

1 reference

A common MLP (muscle LIM protein) variant is associated with cardiomyopathy

21 January 2018

1 reference

Telethonin deficiency is associated with maladaptation to biomechanical stress in the mammalian heart

21 January 2018

1 reference

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

21 January 2018

1 reference

BAG3 myofibrillar myopathy presenting with cardiomyopathy

21 January 2018

1 reference

Muscle LIM Protein Promotes Myogenesis by Enhancing the Activity of MyoD

21 January 2018

1 reference

Cardiac-specific LIM protein FHL2 modifies the hypertrophic response to beta-adrenergic stimulation

21 January 2018

1 reference

Protein-protein interaction of zinc finger LIM domains with protein kinase C

21 January 2018

1 reference

Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells

21 January 2018

1 reference

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

21 January 2018

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Obscurin determines the architecture of the longitudinal sarcoplasmic reticulum.

21 January 2018

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21 January 2018

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Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1

21 January 2018

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Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

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Cardiovascular lesions and skeletal myopathy in mice lacking desmin

21 January 2018

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Cypher/ZASP is a novel A-kinase anchoring protein.

21 January 2018

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Gigantic business: titin properties and function through thick and thin

21 January 2018

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A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy.

21 January 2018

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Comparison of Three Members of the Cysteine-rich Protein Family Reveals Functional Conservation and Divergent Patterns of Gene Expression

21 January 2018

1 reference

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

21 January 2018

1 reference

Generation of patient-specific induced pluripotent stem cell-derived cardiomyocytes as a cellular model of arrhythmogenic right ventricular cardiomyopathy

21 January 2018

1 reference

Titin as a giant scaffold for integrating stress and Src homology domain 3-mediated signaling pathways: the clustering of novel overlap ligand motifs in the elastic PEVK segment

21 January 2018

1 reference

Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin

21 January 2018

1 reference

Altered regional cardiac wall mechanics are associated with differential cardiomyocyte calcium handling due to nebulette mutations in preclinical inherited dilated cardiomyopathy

21 January 2018

1 reference

RNA-guided human genome engineering via Cas9

21 January 2018

1 reference

The vinculin-DeltaIn20/21 mouse: characteristics of a constitutive, actin-binding deficient splice variant of vinculin

21 January 2018

1 reference

Genetic determinants of cardiac hypertrophy

21 January 2018

1 reference

Functional muscle analysis of the Tcap knockout mouse.

21 January 2018

1 reference

Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults

21 January 2018

1 reference

21 January 2018

1 reference

OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency.

21 January 2018

1 reference

ZASP interacts with the mechanosensing protein Ankrd2 and p53 in the signalling network of striated muscle

21 January 2018

1 reference

Restrictive physiology is associated with poor outcomes in children with hypertrophic cardiomyopathy.

21 January 2018

1 reference

Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers

21 January 2018

1 reference

α-cardiac actin mutations produce atrial septal defects

21 January 2018

1 reference

A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.

21 January 2018

1 reference

Genetic mutations and mechanisms in dilated cardiomyopathy

21 January 2018

1 reference

Phenotypic heterogeneity of sarcomeric gene mutations: a matter of gain and loss?

21 January 2018

1 reference

Novel mutations in the sarcomeric protein myopalladin in patients with dilated cardiomyopathy.

21 January 2018

1 reference

The Muscle Ankyrin Repeat Proteins: CARP, ankrd2/Arpp and DARP as a Family of Titin Filament-based Stress Response Molecules

21 January 2018

1 reference

Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs

21 January 2018

1 reference

The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function

21 January 2018

1 reference

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

21 January 2018

1 reference

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis

21 January 2018

1 reference

Mutations in the paxillin-binding site of integrin-linked kinase (ILK) destabilize the pseudokinase domain and cause embryonic lethality in mice

21 January 2018

1 reference

A calcineurin-dependent transcriptional pathway for cardiac hypertrophy

21 January 2018

1 reference

Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains

21 January 2018

1 reference

Targeted disruption of nebulette protein expression alters cardiac myofibril assembly and function

21 January 2018

1 reference

Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects

21 January 2018

1 reference

The coiled-coil domain of MURC/cavin-4 is involved in membrane trafficking of caveolin-3 in cardiomyocytes

21 January 2018

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Studying cardiac arrhythmias in the mouse--a reasonable model for probing mechanisms?

21 January 2018

1 reference

W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy

21 January 2018

1 reference

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy

21 January 2018

1 reference

Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity?

21 January 2018

1 reference

MURC/Cavin-4 facilitates recruitment of ERK to caveolae and concentric cardiac hypertrophy induced by α1-adrenergic receptors

21 January 2018

1 reference

MURC, a muscle-restricted coiled-coil protein that modulates the Rho/ROCK pathway, induces cardiac dysfunction and conduction disturbance

21 January 2018

1 reference

Interactions between nebulin-like motifs and thin filament regulatory proteins

21 January 2018

1 reference

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

21 January 2018

1 reference

Metavinculin mutations alter actin interaction in dilated cardiomyopathy.

21 January 2018

1 reference

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

21 January 2018

1 reference

Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy

21 January 2018

1 reference

Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease

21 January 2018

1 reference

The palladin/myotilin/myopalladin family of actin-associated scaffolds

21 January 2018

1 reference

Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle

21 January 2018

1 reference

Adult mice deficient in actinin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy

21 January 2018

1 reference

Oracle, a novel PDZ-LIM domain protein expressed in heart and skeletal muscle

21 January 2018

1 reference

CRISPR-Cas9 knockin mice for genome editing and cancer modeling

21 January 2018

1 reference

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

21 January 2018

1 reference

Molecular basis for clinical heterogeneity in inherited cardiomyopathies due to myopalladin mutations

21 January 2018

1 reference

Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial Fibroelastosis

21 January 2018

1 reference

At the crossroads of myocardial signaling: the role of Z-discs in intracellular signaling and cardiac function.

21 January 2018

1 reference

Loss of cardiomyocyte integrin-linked kinase produces an arrhythmogenic cardiomyopathy in mice

21 January 2018

1 reference

Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy

21 January 2018

1 reference

Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

21 January 2018

1 reference

Molecular Genetic and Functional Characterization Implicate Muscle-Restricted Coiled-Coil Gene ( MURC ) as a Causal Gene for Familial Dilated Cardiomyopathy

21 January 2018

1 reference

Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity

21 January 2018

1 reference

Integrin-linked kinase (ILK) is required for polarizing the epiblast, cell adhesion, and controlling actin accumulation

21 January 2018

1 reference

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

21 January 2018

1 reference

Mutations in ZASP define a novel form of muscular dystrophy in humans

21 January 2018

1 reference

Genetics of restrictive cardiomyopathy

21 January 2018

1 reference

Cardiac myocyte-specific excision of the beta1 integrin gene results in myocardial fibrosis and cardiac failure

21 January 2018

1 reference

"Z"eroing in on the role of Cypher in striated muscle function, signaling, and human disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

21 January 2018

1 reference

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) That Causes Apical Hypertrophy in Man and Mouse

21 January 2018

1 reference

Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

21 January 2018

1 reference

Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes

21 January 2018

1 reference

Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era.

21 January 2018

1 reference

Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy

21 January 2018

1 reference

Null mutation in the desmin gene gives rise to a cardiomyopathy.

21 January 2018

1 reference

Ca2+/calmodulin-dependent kinase IIdelta causes heart failure by accumulation of p53 in dilated cardiomyopathy

21 January 2018

1 reference

Left Ventricular Noncompaction: A New Form of Heart Failure

21 January 2018

1 reference

Inherited Cardiomyopathies

21 January 2018

1 reference

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

21 January 2018

1 reference

Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation

21 January 2018

1 reference

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

21 January 2018

1 reference

Zebrafish cypher is important for somite formation and heart development

21 January 2018

1 reference

21 January 2018

Desmin-related myopathy

1 reference

Identification of a metavinculin missense mutation, R975W, associated with both hypertrophic and dilated cardiomyopathy

21 January 2018

1 reference

Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction

21 January 2018

1 reference

A class III PDZ binding motif in the myotilin and FATZ families binds enigma family proteins: a common link for Z-disc myopathies

21 January 2018

1 reference

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy

21 January 2018

1 reference

Mouse model of desmin-related cardiomyopathy.

21 January 2018

1 reference

Outcomes of restrictive cardiomyopathy in childhood and the influence of phenotype: a report from the Pediatric Cardiomyopathy Registry.

21 January 2018

1 reference

M line-deficient titin causes cardiac lethality through impaired maturation of the sarcomere

21 January 2018

1 reference

Targeted ablation of ILK from the murine heart results in dilated cardiomyopathy and spontaneous heart failure

21 January 2018

1 reference

Nebulin regulates thin filament length, contractility, and Z-disk structure in vivo

21 January 2018

1 reference

Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells

21 January 2018

1 reference

Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity

21 January 2018

1 reference

Bis deficiency results in early lethality with metabolic deterioration and involution of spleen and thymus

21 January 2018

1 reference

Cardiac-myocyte-specific excision of the vinculin gene disrupts cellular junctions, causing sudden death or dilated cardiomyopathy

21 January 2018

1 reference

Heterozygous inactivation of the vinculin gene predisposes to stress-induced cardiomyopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy

21 January 2018

1 reference

Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C

21 January 2018

1 reference

Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure

21 January 2018

1 reference

Knock-out of nexilin in mice leads to dilated cardiomyopathy and endomyocardial fibroelastosis

21 January 2018

1 reference

The Importance of Genetic Counseling, DNA Diagnostics, and Cardiologic Family Screening in Left Ventricular Noncompaction Cardiomyopathy

21 January 2018

1 reference

A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JCP.25424

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27171814%20AND%20SRC:MED&resulttype=core&format=json

4 April 2020

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