Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy

Ddx20, an Olig2 binding factor, governs the survival of neural and oligodendrocyte progenitor cells via proper Mdm2 splicing and p53 suppression

(2022) Norihisa Bizen et al.   CELL DEATH AND DIFFERENTIATION

Diverse dystonin gene mutations cause distinct patterns of Dst isoform deficiency and phenotypic heterogeneity in Dystonia musculorum mice

(2020) Nozomu Yoshioka et al.   Disease Models & Mechanisms

Disruption of dystonin in Schwann cells results in late‐onset neuropathy and sensory ataxia

(2020) Masao Horie et al.   GLIA

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

(2020) Jie-Yuan Jin et al.   Frontiers in Genetics

Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy

(2020) William W. Motley et al.   Neurology-Genetics

Dystonin loss-of-function leads to impaired autophagy-endolysosomal pathway dynamics

(2020) Anisha Lynch-Godrei et al.   Biochemistry and Cell Biology

Dysfunctional Mitochondrial Dynamic and Oxidative Phosphorylation Precedes Cardiac Dysfunction in R120G‐αB‐Crystallin‐Induced Desmin‐Related Cardiomyopathy

(2020) Shafiul Alam et al.   Journal of the American Heart Association

CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations

(2020) Masashi Ogasawara et al.   Acta Neuropathologica Communications

An RNA Switch of a Large Exon of Ninein Is Regulated by the Neural Stem Cell Specific-RNA Binding Protein, Qki5

(2019) Yoshika Hayakawa-Yano et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

(2019) Jun Sone et al.   NATURE GENETICS

Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice

(2019) Eiji Wada et al.   PLoS One

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

(2019) Julie Heffler et al.   CIRCULATION RESEARCH

Emery‐Dreifuss muscular dystrophy

(2019) Scott A. Heller et al.   MUSCLE & NERVE

A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome

(2018) Yoshinori Sato et al.   KIDNEY INTERNATIONAL

Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd ) phenotype

(2018) Li Zhou et al.   JOURNAL OF NEUROCHEMISTRY

Recessive mutations in the neuronal isoforms of DST , encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

(2018) Paola Fortugno et al.   HUMAN MUTATION

An RNA-binding protein, Qki5, regulates embryonic neural stem cells through pre-mRNA processing in cell adhesion signaling

(2017) Yoshika Hayakawa-Yano et al.   GENES & DEVELOPMENT

Skeletal Muscle-Specific Overexpression of PGC-1α Induces Fiber-Type Conversion through Enhanced Mitochondrial Respiration and Fatty Acid Oxidation in Mice and Pigs

(2017) Lin Zhang et al.   International Journal of Biological Sciences

Motoneuron degeneration in the trigeminal motor nucleus innervating the masseter muscle in Dystonia musculorum mice

(2017) M. Ibrahim Hossain et al.   NEUROCHEMISTRY INTERNATIONAL

Novel mutations in dystonin provide clues to the pathomechanisms of HSAN-VI

(2017) Fiore Manganelli et al.   NEUROLOGY

BPAG1 in muscles: Structure and function in skeletal, cardiac and smooth muscle

(2017) Masao Horie et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

(2016) Lilli Winter et al.   ACTA NEUROPATHOLOGICA

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

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

Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders

(2016) Atsuko Nishikawa et al.   JOURNAL OF MEDICAL GENETICS

Characterization of novel dystonia musculorum mutant mice: Implications for central nervous system abnormality

(2016) Masao Horie et al.   NEUROBIOLOGY OF DISEASE

Mitochondrial dysfunction in myofibrillar myopathy

(2016) Amy E. Vincent et al.   NEUROMUSCULAR DISORDERS

Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice

(2015) Andrew Ferrier et al.   Autophagy

In vivo characterization of human myofibrillar myopathy genes in zebrafish

(2015) John B. Bührdel et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1

(2015) Kseniia Künzli et al.   EXPERIMENTAL DERMATOLOGY

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

(2015) Ilona Staszewska et al.   HUMAN MOLECULAR GENETICS

Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle

(2015) Lilli Winter et al.   HUMAN MOLECULAR GENETICS

Linker of Nucleoskeleton and Cytoskeleton Complex Proteins in Cardiac Structure, Function, and Disease

(2014) Matthew J Stroud et al.   CIRCULATION RESEARCH

Disruption of actin-binding domain-containing Dystonin protein causesdystonia musculorumin mice

(2014) Masao Horie et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

(2014) A. Ferrier et al.   HUMAN MOLECULAR GENETICS

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle

(2014) Lilli Winter et al.   JOURNAL OF CLINICAL INVESTIGATION

Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn–plectin 1f complexes

(2014) Eva Mihailovska et al.   MOLECULAR BIOLOGY OF THE CELL

Targeted Ablation of Nesprin 1 and Nesprin 2 from Murine Myocardium Results in Cardiomyopathy, Altered Nuclear Morphology and Inhibition of the Biomechanical Gene Response

(2014) Indroneal Banerjee et al.   PLoS Genetics

Regulation of expression of atrial and brain natriuretic peptide, biomarkers for heart development and disease

(2013) Irina A. Sergeeva et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial abnormalities in myofibrillar myopathies

(2013) Pushpa R. Joshi et al.   CLINICAL NEUROPATHOLOGY

Stabilization of the dystroglycan complex in Cajal bands of myelinating Schwann cells through plectin-mediated anchorage to vimentin filaments

(2013) Gernot Walko et al.   GLIA

Plectin–intermediate filament partnership in skin, skeletal muscle, and peripheral nerve

(2013) Maria J. Castañón et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Enhanced autophagy ameliorates cardiac proteinopathy

(2013) Md. Shenuarin Bhuiyan et al.   JOURNAL OF CLINICAL INVESTIGATION

Desminopathies: pathology and mechanisms

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

In Vivo Characterization of Mutant Myotilins

(2012) Etsuko Keduka et al.   AMERICAN JOURNAL OF PATHOLOGY

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

Autophagy-related proteins (p62, NBR1 and LC3) in intranuclear inclusions in neurodegenerative diseases

(2012) Fumiaki Mori et al.   NEUROSCIENCE LETTERS

Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease

(2011) J. Sone et al.   NEUROLOGY

The nucleoplasmic reticulum: form and function

(2011) Ashraf Malhas et al.   TRENDS IN CELL BIOLOGY

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Hearts of Dystonia musculorum Mice Display Normal Morphological and Histological Features but Show Signs of Cardiac Stress

(2010) Justin G. Boyer et al.   PLoS One

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

BPAG1 isoform-b: Complex distribution pattern in striated and heart muscle and association with plectin and α-actinin

(2009) Marie-France Steiner-Champliaud et al.   EXPERIMENTAL CELL RESEARCH

Plakins in striated muscle

(2009) Justin G. Boyer et al.   MUSCLE & NERVE

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons

(2008) Kevin G. Young et al.   EXPERIMENTAL CELL RESEARCH

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

Mitochondrial dysfunction results from oxidative stress in the skeletal muscle of diet-induced insulin-resistant mice

(2008) Charlotte Bonnard et al.   JOURNAL OF CLINICAL INVESTIGATION

Nucleoplasmic reticulum is not essential in nuclear calcium signalling mediated by cyclic ADPribose in primary neurons

(2008) S. Bezin et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

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