Desminopathies: pathology and mechanisms

Structural and functional evaluation of branched myofibers lacking intermediate filaments

(2012) Mariah H. Goodall et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Patologia do bloqueio atrioventricular na cardiomiopatia por depósito de desmina

(2012) Luiz Alberto Benvenuti et al.   Arquivos Brasileiros de Cardiologia

Biomechanical characterization of a desminopathy in primary human myoblasts

(2012) Navid Bonakdar et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin

(2012) Monica Ohlsson et al.   BRAIN

Titin mutation segregates with hereditary myopathy with early respiratory failure

(2012) Gerald Pfeffer et al.   BRAIN

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

(2012) Carola Hedberg et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D

(2012) K. Y. van Spaendonck-Zwarts et al.   Netherlands Heart Journal

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

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

Autophagy and p62 in Cardiac Proteinopathy

(2011) Qingwen Zheng et al.   CIRCULATION RESEARCH

Plectin interacts with the rod domain of type III intermediate filament proteins desmin and vimentin

(2011) Bertrand Favre et al.   EUROPEAN JOURNAL OF CELL BIOLOGY

Characterization of the failing murine heart in a desmin knock-out model using a clinical 3 T MRI scanner

(2011) A. M. Sprinkart et al.   INTERNATIONAL JOURNAL OF CARDIOVASCULAR IMAGING

HSP25 can modulate myofibrillar desmin cytoskeleton following the phosphorylation at Ser15 in rat soleus muscle

(2011) Fuminori Kawano et al.   JOURNAL OF APPLIED PHYSIOLOGY

Complex formation and kinetics of filament assembly exhibited by the simple epithelial keratins K8 and K18

(2011) Tanja Lichtenstern 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

Myofibrillar myopathies

(2011) Duygu Selcen   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

Semi-automated quantitative image analysis of podocyte desmin immunoreactivity as a sensitive marker for acute glomerular damage in the rat puromycin aminonucleoside nephrosis (PAN) model

(2010) Annika Herrmann et al.   EXPERIMENTAL AND TOXICOLOGIC PATHOLOGY

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

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

(2010) Lev G. Goldfarb et al.   JOURNAL OF CLINICAL INVESTIGATION

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle

(2010) Karim Hnia et al.   JOURNAL OF CLINICAL INVESTIGATION

Cardiac conduction disturbances and differential effects on atrial and ventricular electrophysiological properties in desmin deficient mice

(2010) Jan Wilko Schrickel et al.   JOURNAL OF INTERVENTIONAL CARDIAC ELECTROPHYSIOLOGY

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

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

Atomic structure of vimentin coil 2

(2010) Stefan Nicolet et al.   JOURNAL OF STRUCTURAL BIOLOGY

Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain

(2010) Luis Vernengo et al.   NEUROMUSCULAR DISORDERS

A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene

(2010) D. Hong et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

QTc Prolongation and Family History of Sudden Death in a Patient with Desmin Cardiomyopathy

(2010) RAPHAEL K. SUNG et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

DNA methylation-histone modification relationships across the desmin locus in human primary cells

(2009) Marianne Allen et al.   BMC MOLECULAR BIOLOGY

Myofibrillar Myopathies: A Clinical and Myopathological Guide

(2009) Rolf Schröder et al.   BRAIN PATHOLOGY

Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

(2009) J. Peter van Tintelen et al.   HEART RHYTHM

“IF-pathies”: a broad spectrum of intermediate filament–associated diseases

(2009) M. Bishr Omary   JOURNAL OF CLINICAL INVESTIGATION

Intermediate filaments: primary determinants of cell architecture and plasticity

(2009) Harald Herrmann et al.   JOURNAL OF CLINICAL INVESTIGATION

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease

(2009) Lev G. Goldfarb et al.   JOURNAL OF CLINICAL INVESTIGATION

Desmin and Vimentin Intermediate Filament Networks: Their Viscoelastic Properties Investigated by Mechanical Rheometry

(2009) Michael Schopferer et al.   JOURNAL OF MOLECULAR BIOLOGY

Disease mutations in the “head” domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties

(2009) Sarika Sharma et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

G.O.7 A homozygous desmin deletion causes an Emery-Dreifuss like recessive myopathy with desmin depletion

(2009) V. Carmignac et al.   NEUROMUSCULAR DISORDERS

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

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

Interference of amino-terminal desmin fragments with desmin filament formation

(2009) Harald Bär et al.   CELL MOTILITY AND THE CYTOSKELETON

Interaction of Surfactant Protein A with the Intermediate Filaments Desmin and Vimentin†

(2008) Ignacio Garcia-Verdugo et al.   BIOCHEMISTRY

Tensile Properties of Single Desmin Intermediate Filaments

(2008) Laurent Kreplak et al.   BIOPHYSICAL JOURNAL

Involvement patterns in myotilinopathy and desminopathy detected by a novel neuromuscular whole-body MRI protocol

(2008) Nicolai Schramm et al.   EUROPEAN RADIOLOGY

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

(2008) Manolis Mavroidis et al.   FASEB JOURNAL

How much mutant protein is needed to cause a protein aggregate myopathy in vivo? Lessons from an exceptional desminopathy

(2008) Christoph S. Clemen et al.   HUMAN MUTATION

Desmin mediates TNF-α–induced aggregate formation and intercalated disk reorganization in heart failure

(2008) Panagiota Panagopoulou et al.   JOURNAL OF CELL BIOLOGY

Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms

(2008) Patryk Konieczny et al.   JOURNAL OF CELL BIOLOGY

Severe Myopathy Mutations Modify the Nanomechanics of Desmin Intermediate Filaments

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

Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria

(2008) Anna Kostareva et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Distinct muscle imaging patterns in myofibrillar myopathies

(2008) D. Fischer et al.   NEUROLOGY

Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

(2008) Katharina Strach et al.   NEUROMUSCULAR DISORDERS

Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family

(2008) Emmanuel C. Pica et al.   NEUROMUSCULAR DISORDERS

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human diseases

(2007) Ildiko Szeverenyi et al.   HUMAN MUTATION