ArticleHuman molecular genetics2014
Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 36 citations in OpenAlex.
- Disruption of afferent neural circuits leads to arrhythmia in the animal model of hereditary sensory and autonomic neuropathy 6.Frontiers in neural circuits · 2026Article
- A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family.Human genome variation · 2025Article
- Identification of novel genetic loci related to dromedary camel (Camelus dromedarius) morphometrics, biomechanics, and behavior by genome-wide association studies.BMC veterinary research · 2024Article
- Sensory-motor circuit is a therapeutic target forScience advances · 2024Article
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Article
- Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.Diagnostics (Basel, Switzerland) · 2022Review
- Strength Through Unity: The Power of the Mega-Scaffold MACF1.Frontiers in cell and developmental biology · 2021Review
- Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.Neurology. Genetics · 2020Article
- Diverse dystonin gene mutations cause distinct patterns ofDisease models & mechanisms · 2020Article
- HSAN-VI: A spectrum disorder based on dystonin isoform expression.Neurology. Genetics · 2020Article
- Novel Compound HeterozygousFrontiers in genetics · 2020Article
- Microtubule-Actin Crosslinking Factor 1 and Plakins as Therapeutic Drug Targets.International journal of molecular sciences · 2018Review
- Spectraplakin family proteins - cytoskeletal crosslinkers with versatile roles.Journal of cell science · 2017Review
- Disrupted-in-Schizophrenia-1 (DISC1) protein disturbs neural function in multiple disease-risk pathways.Human molecular genetics · 2017Article
- Novel mutations inNeurology · 2017Article
- Short stop mediates axonal compartmentalization of mucin-type core 1 glycans.Scientific reports · 2017Article
- Microtubule plus-end tracking proteins in neuronal development.Cellular and molecular life sciences : CMLS · 2016Review
- Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice.Autophagy · 2015Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). The HSAN-VI mutation impacts all major neuronal BPAG1/dystonin protein isoforms: dystonin-a1, -a2 and -a3. Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed dystonia musculorum (dt). Phenotypically, dt mice are similar to HSAN-VI patients, manifesting progressive limb contractures, dystonia, dysautonomia and early postnatal death. To obtain a better molecular understanding of disease pathogenesis in HSAN-VI patients and the dt disorder, we generated transgenic mice expressing a myc-tagged dystonin-a2 protein under the regulation of the neuronal prion protein promoter on the dt(Tg4/Tg4) background, which is devoid of endogenous dystonin-a1 and -a2, but does express dystonin-a3. Restoring dystonin-a2 expression in the nervous system, particularly within sensory neurons, prevented the disorganization of organelle membranes and microtubule networks, attenuated the degeneration of sensory neuron subtypes and ameliorated the phenotype and increased life span in these mice. Despite these improvements, complete rescue was not observed likely because of inadequate expression of the transgene. Taken together, this study provides needed insight into the molecular basis of the dt disorder and other peripheral neuropathies including HSAN-VI.
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