Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues

Pathogenic DST sequence variants result in either epidermolysis bullosa simplex (EBS) or hereditary sensory and autonomic neuropathy type 6 (HSAN‐VI)

(2022) Raziyeh Khalesi et al.   EXPERIMENTAL DERMATOLOGY

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

(2022) Nozomu Yoshioka et al.   eLife

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

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

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

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

(2019) Jun Sone et al.   NATURE GENETICS

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

Epidermolysis Bullosa Simplex Caused by Distal Truncation of BPAG1-e: An Intermediate Generalized Phenotype with Prurigo Papules

(2017) Iana Turcan et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

(2016) Frauke Seehusen et al.   GENETICS

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

(2016) Masao Horie et al.   NEUROBIOLOGY OF DISEASE

Axonopathy in the Central Nervous System Is the Hallmark of Mice with a Novel Intragenic Null Mutation of Dystonin

(2016) Frauke Seehusen et al.   GENETICS

Recently Identified Forms of Epidermolysis Bullosa

(2015) John A. McGrath   Annals of Dermatology

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

(2015) Andrew Ferrier et al.   Autophagy

Molecular architecture and function of the hemidesmosome

(2015) Gernot Walko et al.   CELL AND TISSUE RESEARCH

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

Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

(2014) T. Takeichi et al.   BRITISH JOURNAL OF DERMATOLOGY

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

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

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

Plakins, a Versatile Family of Cytolinkers: Roles in Skin Integrity and in Human Diseases

(2013) Jamal-Eddine Bouameur et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Microtubule stability, Golgi organization, and transport flux require dystonin-a2–MAP1B interaction

(2012) Scott D. Ryan et al.   JOURNAL OF CELL BIOLOGY

Mechanisms of disease in hereditary sensory and autonomic neuropathies

(2012) Annelies Rotthier et al.   Nature Reviews Neurology

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

(2012) Fumiaki Mori et al.   NEUROSCIENCE LETTERS

MAP1B and Clathrin Are Novel Interacting Partners of the Giant Cyto-linker Dystonin

(2011) Kunal Bhanot et al.   JOURNAL OF PROTEOME RESEARCH

Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function

(2011) Scott D. Ryan et al.   MOLECULAR BIOLOGY OF THE CELL

Motor Unit Abnormalities in Dystonia musculorum Mice

(2011) Yves De Repentigny et al.   PLoS One

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

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

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