ArticleCell reports2017
A Role for Dystonia-Associated Genes in Spinal GABAergic Interneuron Circuitry.
Article in Cell reports, 2017. 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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Who cites it
19 citing papers in PubMed, 25 citations in OpenAlex.
- Mapping the peripheral sensory dimension of dystonia: a five-axis analysis.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Dysregulated nuclear Lamin B1 in DYT1 dystonia thickens nuclear lamina and disrupts 14-3-3 proteins.Cell death discovery · 2026Article
- Sensory-motor circuit is a therapeutic target forScience advances · 2024Article
- RANBP17 Overexpression Restores Nucleocytoplasmic Transport and Ameliorates Neurodevelopment in Induced DYT1 Dystonia Motor Neurons.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2024Article
- Preclinical long-term safety of intraspinal transplantation of human dorsal spinal GABA neural progenitor cells.iScience · 2023Article
- Deletion of Transferrin Receptor 1 in Parvalbumin Interneurons Induces a Hereditary Spastic Paraplegia-Like Phenotype.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Pathophysiology of Dyt1-Science translational medicine · 2023Article
- Human spinal GABA neurons survive and mature in the injured nonhuman primate spinal cord.Stem cell reports · 2023Article
- Novel insights into the pathogenesis of DYT1 dystonia from induced patient-derived neurons.Neural regeneration research · 2022Article
- The Potential Role of miRNAs as Predictive Biomarkers in Neurodevelopmental Disorders.Journal of molecular neuroscience : MN · 2021Review
- Proprioception revisited: where do we stand?Current opinion in physiology · 2021Article
- Abnormal cerebellar function and tremor in a mouse model for non-manifesting partially penetrant dystonia type 6.The Journal of physiology · 2021Article
- Spinal Inhibitory Interneurons: Gatekeepers of Sensorimotor Pathways.International journal of molecular sciences · 2021Review
- Integrated Analysis of microRNA and mRNA Expression Profiles: An Attempt to Disentangle the Complex Interaction Network in Attention Deficit Hyperactivity Disorder.Brain sciences · 2019Article
- Inferring Regulatory Programs Governing Region Specificity of Neuroepithelial Stem Cells during Early Hindbrain and Spinal Cord Development.Cell systems · 2019Article
- Cell type and circuit modules in the spinal cord.Current opinion in neurobiology · 2019Review
- Transcription factor Ptf1a in development, diseases and reprogramming.Cellular and molecular life sciences : CMLS · 2019Review
- Pou2f2 Regulates the Distribution of Dorsal Interneurons in the Mouse Developing Spinal Cord.Frontiers in molecular neuroscience · 2019Article
- Sensory and descending motor circuitry during development and injury.Current opinion in neurobiology · 2018Review
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Authors and funding
10 authors at 7 institutions in 1 country.
Funding
Abstract
Spinal interneurons are critical modulators of motor circuit function. In the dorsal spinal cord, a set of interneurons called GABApre presynaptically inhibits proprioceptive sensory afferent terminals, thus negatively regulating sensory-motor signaling. Although deficits in presynaptic inhibition have been inferred in human motor diseases, including dystonia, it remains unclear whether GABApre circuit components are altered in these conditions. Here, we use developmental timing to show that GABApre neurons are a late Ptf1a-expressing subclass and localize to the intermediate spinal cord. Using a microarray screen to identify genes expressed in this intermediate population, we find the kelch-like family member Klhl14, implicated in dystonia through its direct binding with torsion-dystonia-related protein Tor1a. Furthermore, in Tor1a mutant mice in which Klhl14 and Tor1a binding is disrupted, formation of GABApre sensory afferent synapses is impaired. Our findings suggest a potential contribution of GABApre neurons to the deficits in presynaptic inhibition observed in dystonia.
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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.