Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy

(2021) Olga Kulikova et al.   Genes

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes

(2021) Parisha P. Shah et al.   Cell Stem Cell

Transiently structured head domains control intermediate filament assembly

(2021) Xiaoming Zhou et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Beta-strand-mediated dimeric formation of the Ig-like domains of human lamin A/C and B1

(2021) Jinsook Ahn et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Synemin-related skeletal and cardiac myopathies: an overview of pathogenic variants

(2020) Denise Paulin et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

(2020) Jaakko Sarparanta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Is Desmin Propensity to Aggregate Part of its Protective Function?

(2020) Sonia R. Singh et al.   Cells

Lamin A involvement in ageing processes

(2020) Vittoria Cenni et al.   AGEING RESEARCH REVIEWS

Dysfunctional polycomb transcriptional repression contributes to lamin A/C–dependent muscular dystrophy

(2020) Andrea Bianchi et al.   JOURNAL OF CLINICAL INVESTIGATION

Synemin Redefined: Multiple Binding Partners Results in Multifunctionality

(2020) Mary A. Russell   Frontiers in Cell and Developmental Biology

Coordinated alpha-crystallin B phosphorylation and desmin expression indicate adaptation and deadaptation to resistance exercise-induced loading in human skeletal muscle

(2020) Daniel Jacko et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

(2020) Yanbin Fan et al.   JOURNAL OF MEDICAL GENETICS

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

(2020) Anwar Baban et al.   Frontiers in Pediatrics

The Intermediate Filament Synemin Regulates Non-Homologous End Joining in an ATM-Dependent Manner

(2020) Sara Sofia Deville et al.   Cancers

Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction

(2020) Cristina Cappelletti et al.   Cells

PCAF Involvement in Lamin A/C-HDAC2 Interplay during the Early Phase of Muscle Differentiation

(2020) Spartaco Santi et al.   Cells

Dual Functional States of R406W-Desmin Assembly Complexes Cause Cardiomyopathy With Severe Intercalated Disc Derangement in Humans and in Knock-In Mice

(2020) Harald Herrmann et al.   CIRCULATION

Intermediate filaments against actomyosin: the david and goliath of cell migration

(2020) Emma J. van Bodegraven et al.   CURRENT OPINION IN CELL BIOLOGY

Lack of Desmin in Mice Causes Structural and Functional Disorders of Neuromuscular Junctions

(2020) Nane Eiber et al.   Frontiers in Molecular Neuroscience

The novel desmin variant p.Leu115Ile is associated with a unique form of biventricular Arrhythmogenic Cardiomyopathy

(2020) Alexandros Protonotarios et al.   CANADIAN JOURNAL OF CARDIOLOGY

Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth

(2020) Daniel J. Owens et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Recent insight into intermediate filament structure

(2020) Sherif A. Eldirany et al.   CURRENT OPINION IN CELL BIOLOGY

Intermediate filaments as effectors of differentiation

(2020) Catherine J. Redmond et al.   CURRENT OPINION IN CELL BIOLOGY

The Cutting Edge: The Role of mTOR Signaling in Laminopathies

(2019) Francesca Chiarini et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

Alterations of redox dynamics and desmin post-translational modifications in skeletal muscle models of desminopathies

(2019) Florence Delort et al.   EXPERIMENTAL CELL RESEARCH

Ankrd2 in Mechanotransduction and Oxidative Stress Response in Skeletal Muscle: New Cues for the Pathogenesis of Muscular Laminopathies

(2019) Vittoria Cenni et al.   Oxidative Medicine and Cellular Longevity

Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity

(2019) Alex A. Makarov et al.   Nature Communications

The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

(2019) Nicolò Salvarani et al.   Nature Communications

Identification of the intermediate filament protein synemin/SYNM as a target of myocardin family coactivators

(2019) Karl Swärd et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy

(2019) Giovanni Peretto et al.   ANNALS OF INTERNAL MEDICINE

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

(2019) Andreas Brodehl et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Importance of early diagnosis in LMNA ‐related muscular dystrophy for cardiac surveillance

(2019) Sun Ah Choi et al.   MUSCLE & NERVE

P.256Steroid treatment may change natural history in young children with LMNA mutations and dropped head syndrome

(2019) M. Gomez Garcia de la Banda et al.   NEUROMUSCULAR DISORDERS

Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

(2019) Raffaello Ditaranto et al.   Orphanet Journal of Rare Diseases

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

(2019) Andreas Brodehl et al.   Genes

A Balance Between Intermediate Filaments and Microtubules Maintains Nuclear Architecture in the Cardiomyocyte

(2019) Julie Heffler et al.   CIRCULATION RESEARCH

Systematic Review of Genotype‐Phenotype Correlations in Noncompaction Cardiomyopathy

(2019) Jaap I. van Waning et al.   Journal of the American Heart Association

A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism

(2019) Peter Meinke et al.   EBioMedicine

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing

(2018) Vittoria Cenni et al.   AGEING RESEARCH REVIEWS

Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy

(2018) Zhao-Xia Wang et al.   CHINESE MEDICAL JOURNAL

Arrhythmogenic Cardiomyopathy

(2018) Luisa Mestroni et al.   CIRCULATION

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort

(2018) Alzira Alves de Siqueira Carvalho et al.   Genetic Testing and Molecular Biomarkers

Cofilin-1 phosphorylation catalyzed by ERK1/2 alters cardiac actin dynamics in dilated cardiomyopathy caused by lamin A/C gene mutation

(2018) Maria Chatzifrangkeskou et al.   HUMAN MOLECULAR GENETICS

Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene

(2018) Coline Macquart et al.   HUMAN MOLECULAR GENETICS

creat229 th ENMC international workshop: Limb girdle muscular dystrophies – nomenclature and reformed classification, 17-19 March 2017, Naarden, The Netherlands

(2018) Volker Straub et al.   NEUROMUSCULAR DISORDERS

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells

(2018) Alexandre Janin et al.   Scientific Reports

Clinical aspects of Emery-Dreifuss muscular dystrophy

(2018) Agnieszka Madej-Pilarczyk   Nucleus

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

(2018) Pia Bernasconi et al.   Nucleus

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

(2018) Cristina Cappelletti et al.   Nucleus

Clinical aspects of Emery-Dreifuss muscular dystrophy

(2018) Agnieszka Madej-Pilarczyk   Nucleus

Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes

(2018) Pia Bernasconi et al.   Nucleus

Up-regulation of Toll-like receptors 7 and 9 and its potential implications in the pathogenic mechanisms of LMNA-related myopathies

(2018) Cristina Cappelletti et al.   Nucleus

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation

(2018) Anna Zlotina et al.   Frontiers in Genetics

Cytoplasmic Intermediate Filaments in Cell Biology

(2018) Sandrine Etienne-Manneville   Annual Review of Cell and Developmental Biology

Cardiolaminopathies from bench to bedside: challenges in clinical decision-making with focus on arrhythmia-related outcomes

(2018) Giuseppe Boriani et al.   Nucleus

A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathy

(2018) Shu-Bing Zhang et al.   ANNALS OF HUMAN GENETICS

Amelioration of desmin network defects by αB-crystallin overexpression confers cardioprotection in a mouse model of dilated cardiomyopathy caused by LMNA gene mutation

(2018) Zoi Galata et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Samp1 Mislocalization in Emery-Dreifuss Muscular Dystrophy

(2018) Elisabetta Mattioli et al.   Cells

Opposite effects of catalase and MnSOD ectopic expression on stress induced defects and mortality in the desmin deficient cardiomyopathy model

(2017) Kleopatra Rapti et al.   FREE RADICAL BIOLOGY AND MEDICINE

Connecting the plasma membrane to the nucleus by intermediate filaments

(2017) Sandrine Etienne-Manneville et al.   MOLECULAR BIOLOGY OF THE CELL

The molecular architecture of lamins in somatic cells

(2017) Yagmur Turgay et al.   NATURE

Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin

(2017) Elly M. Hol et al.   Cold Spring Harbor Perspectives in Biology

Evidence that S6K1, but not 4E-BP1, mediates skeletal muscle pathology associated with loss of A-type lamins

(2017) Chen-Yu Liao et al.   Cell Discovery

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

ERK1/2 directly acts on CTGF/CCN2 expression to mediate myocardial fibrosis in cardiomyopathy caused by mutations in the lamin A/C gene

(2016) Maria Chatzifrangkeskou et al.   HUMAN MOLECULAR GENETICS

Desmin and αB-crystallin interplay in the maintenance of mitochondrial homeostasis and cardiomyocyte survival

(2016) Antigoni Diokmetzidou et al.   JOURNAL OF CELL SCIENCE

Neuromuscular endplate pathology in recessive desminopathies

(2016) Hacer Durmuş et al.   NEUROLOGY

Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes

(2016) Jordi Díaz-Manera et al.   NEUROMUSCULAR DISORDERS

Desmin enters the nucleus of cardiac stem cells and modulates Nkx2.5 expression by participating in transcription factor complexes that interact with thenkx2.5gene

(2016) Christiane Fuchs et al.   Biology Open

Skeletal Muscle Laminopathies: A Review of Clinical and Molecular Features

(2016) Lorenzo Maggi et al.   Cells

Complement system modulation as a target for treatment of arrhythmogenic cardiomyopathy

(2015) Manolis Mavroidis et al.   BASIC RESEARCH IN CARDIOLOGY

Desmin related disease: a matter of cell survival failure

(2015) Yassemi Capetanaki et al.   CURRENT OPINION IN CELL BIOLOGY

A novel lamin A/C gene missense mutation (445 V > E) in immunoglobulin-like fold associated with left ventricular non-compaction

(2015) Zhouying Liu et al.   EUROPACE

Plectin isoform 1-dependent nuclear docking of desmin networks affects myonuclear architecture and expression of mechanotransducers

(2015) Ilona Staszewska et al.   HUMAN MOLECULAR GENETICS

Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes

(2015) Elisa Cesarini et al.   JOURNAL OF CELL BIOLOGY

Modulation of TGFbeta 2 levels by lamin A in U2-OS osteoblast-like cells: understanding the osteolytic process triggered by altered lamins

(2015) Camilla Evangelisti et al.   Oncotarget

Antioxidant Treatment and Induction of Autophagy Cooperate to Reduce Desmin Aggregation in a Cellular Model of Desminopathy

(2015) Eva Cabet et al.   PLoS One

Desmosomes in the Heart: A Review of Clinical and Mechanistic Analyses

(2014) Dipal M. Patel et al.   CELL COMMUNICATION AND ADHESION

LMNA-associated myopathies: The Italian experience in a large cohort of patients

(2014) L. Maggi et al.   NEUROLOGY

DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction

(2014) S. Arimura et al.   SCIENCE

Striated muscle laminopathies

(2014) Feriel Azibani et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Muscular Dystrophy-Associated SUN1 and SUN2 Variants Disrupt Nuclear-Cytoskeletal Connections and Myonuclear Organization

(2014) Peter Meinke et al.   PLoS Genetics

Diverse lamin-dependent mechanisms interact to control chromatin dynamics

(2014) Daria Camozzi et al.   Nucleus

Recessive desmin-null muscular dystrophy with central nuclei and mitochondrial abnormalities

(2013) Matthew Henderson et al.   ACTA NEUROPATHOLOGICA

Cellular Mechanotransduction Relies on Tension-Induced and Chaperone-Assisted Autophagy

(2013) Anna Ulbricht et al.   CURRENT BIOLOGY

‘State-of-the-heart’ of cardiac laminopathies

(2013) Marie-Elodie Cattin et al.   CURRENT OPINION IN CARDIOLOGY

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

(2013) Roberta Roncarati et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2013) Hung-Fat Tse et al.   HUMAN MOLECULAR GENETICS

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies

(2013) Nilgun Cetin et al.   JOURNAL OF MEDICAL GENETICS

Genetic and clinical characteristics of skeletal and cardiac muscle in patients with lamin A/C gene mutations

(2013) Nicola Carboni et al.   MUSCLE & NERVE

Lamin A/C and emerin regulate MKL1–SRF activity by modulating actin dynamics

(2013) Chin Yee Ho et al.   NATURE

Desminopathies: pathology and mechanisms

(2012) Christoph S. Clemen et al.   ACTA NEUROPATHOLOGICA

Nesprin interchain associations control nuclear size

(2012) Wenshu Lu et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Gender-specific differences in major cardiac events and mortality in lamin A/C mutation carriers

(2012) Ingrid A.W. van Rijsingen et al.   EUROPEAN JOURNAL OF HEART FAILURE

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy

(2012) M. P. Menezes et al.   NEUROLOGY

A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement

(2012) Ayako Hattori et al.   NEUROMUSCULAR DISORDERS

Temsirolimus Activates Autophagy and Ameliorates Cardiomyopathy Caused by Lamin A/C Gene Mutation

(2012) J. C. Choi et al.   Science Translational Medicine

Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics

(2011) Steven A. Greenberg et al.   ANNALS OF NEUROLOGY

Clinical and genetic heterogeneity in laminopathies

(2011) Anne T. Bertrand et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Treatment with selumetinib preserves cardiac function and improves survival in cardiomyopathy caused by mutation in the lamin A/C gene

(2011) A. Muchir et al.   CARDIOVASCULAR RESEARCH

Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle

(2011) E Mattioli et al.   CELL DEATH AND DIFFERENTIATION

Regulation of adverse remodelling by osteopontin in a genetic heart failure model

(2011) Stelios Psarras et al.   EUROPEAN HEART JOURNAL

Inroads into the structure and function of intermediate filament networks

(2011) Robert D. Goldman et al.   JOURNAL OF STRUCTURAL BIOLOGY

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

(2011) Montse Olivé et al.   NEUROMUSCULAR DISORDERS

Inflammatory changes in infantile-onset LMNA-associated myopathy

(2011) Hirofumi Komaki et al.   NEUROMUSCULAR DISORDERS

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study

(2011) Karim Wahbi et al.   NEUROMUSCULAR DISORDERS

Desmin-related myopathy

(2010) KY van Spaendonck-Zwarts et al.   CLINICAL GENETICS

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

(2010) B. Granger et al.   HUMAN GENETICS

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

(2010) Baerbel Klauke et al.   HUMAN MOLECULAR GENETICS

Mutations in Desmin's Carboxy-Terminal “Tail” Domain Severely Modify Filament and Network Mechanics

(2010) Harald Bär et al.   JOURNAL OF MOLECULAR BIOLOGY

Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study

(2009) Kristl G. Claeys et al.   ACTA NEUROPATHOLOGICA

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

(2009) Lucie Gueneau et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

(2009) Eugenio Mercuri et al.   ANNALS OF NEUROLOGY

Lamin A/C–mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy

(2009) Alexandre Méjat et al.   JOURNAL OF CELL BIOLOGY

Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused byLMNAgene mutations

(2009) Nicola Carboni et al.   MUSCLE & NERVE

Selectivity of muscle sparing in Emery–Dreifuss muscular dystrophy

(2009) Luciano Merlini   NEUROMUSCULAR DISORDERS

Mutation in BAG3 causes severe dominant childhood muscular dystrophy

(2008) Duygu Selcen et al.   ANNALS OF NEUROLOGY

De novoLMNAmutations cause a new form of congenital muscular dystrophy

(2008) Susana Quijano-Roy et al.   ANNALS OF NEUROLOGY

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy

(2008) David Araújo-Vilar et al.   CLINICAL ENDOCRINOLOGY

Long-Term Outcome and Risk Stratification in Dilated Cardiolaminopathies

(2008) Michele Pasotti et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

Autophagy is an adaptive response in desmin-related cardiomyopathy

(2008) P. Tannous et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA