Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues
出版年份 2023 全文链接
标题
Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues
作者
关键词
-
出版物
ANATOMICAL SCIENCE INTERNATIONAL
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2023-08-21
DOI
10.1007/s12565-023-00739-1
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- 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
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started