ArticleMolecular biology of the cell2012
Neuronal dystonin isoform 2 is a mediator of endoplasmic reticulum structure and function.
Article in Molecular biology of the cell, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- B-cell lymphoma-extra large expression correlated with protein kinase RNA-like ER kinase and ubiquitination signals in the type 1 diabetes mouse model.Pain reports · 2025Article
- BPAG1 promotes osteoclastogenesis and postmenopausal osteoporosis via activating ERK signaling pathway.iScience · 2025Article
- Roles of Neuronal Protein Kinase Cε on Endoplasmic Reticulum Stress and Autophagic Formation in Diabetic Neuropathy.Molecular neurobiology · 2024Article
- Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues.Anatomical science international · 2024Review
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Altered estradiol-dependent cellular CaMolecular psychiatry · 2021Article
- 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
- Differential and overlapping targets of the transcriptional regulators NRF1, NRF2, and NRF3 in human cells.The Journal of biological chemistry · 2019Article
- Pilose Antler Extracts (PAEs) Protect against Neurodegeneration in 6-OHDA-Induced Parkinson's Disease Rat Models.Evidence-based complementary and alternative medicine : eCAM · 2019Article
- Structure of the Golgi apparatus is not influenced by a GAG deletion mutation in the dystonia-associated gene Tor1a.PloS one · 2018Article
- Spectraplakin family proteins - cytoskeletal crosslinkers with versatile roles.Journal of cell science · 2017Review
- Bullous pemphigoid and neurodegenerative diseases: a study in a setting of a Central European university dermatology department.Aging clinical and experimental research · 2016Article
- 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
- Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.Human molecular genetics · 2014Article
- Plakins, a versatile family of cytolinkers: roles in skin integrity and in human diseases.The Journal of investigative dermatology · 2014Review
- Complex network analysis of CA3 transcriptome reveals pathogenic and compensatory pathways in refractory temporal lobe epilepsy.PloS one · 2013Article
- Spectraplakins: master orchestrators of cytoskeletal dynamics.The Journal of cell biology · 2012Review
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
Dystonin/Bpag1 is a cytoskeletal linker protein whose loss of function in dystonia musculorum (dt) mice results in hereditary sensory neuropathy. Although loss of expression of neuronal dystonin isoforms (dystonin-a1/dystonin-a2) is sufficient to cause dt pathogenesis, the diverging function of each isoform and what pathological mechanisms are activated upon their loss remains unclear. Here we show that dt(27) mice manifest ultrastructural defects at the endoplasmic reticulum (ER) in sensory neurons corresponding to in vivo induction of ER stress proteins. ER stress subsequently leads to sensory neurodegeneration through induction of a proapoptotic caspase cascade. dt sensory neurons display neurodegenerative pathologies, including Ca(2+) dyshomeostasis, unfolded protein response (UPR) induction, caspase activation, and apoptosis. Isoform-specific loss-of-function analysis attributes these neurodegenerative pathologies to specific loss of dystonin-a2. Inhibition of either UPR or caspase signaling promotes the viability of cells deficient in dystonin. This study provides insight into the mechanism of dt neuropathology and proposes a role for dystonin-a2 as a mediator of normal ER structure and function.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.