ArticlePLoS genetics2015
Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS.
Article in PLoS genetics, 2015. 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, 22 citations in OpenAlex.
- ESCRT-0 regulates AMPA receptor currents and CabioRxiv : the preprint server for biology · 2026Article
- Extracellular vesicles as biomarkers of disease progression and therapeutic response in patients with spinal muscular atrophy.Molecular therapy. Advances · 2026Article
- Machine learning-based prediction model for drug target identification and MASH improvement: a comprehensive analysis of biochemical and ferroptosis/autophagy biomarkers.Journal of physiology and biochemistry · 2026Article
- An Analysis of Hand Size and Grip Strength in a Working Population in Bogotá, Colombia.Iranian journal of public health · 2025Article
- Analysis of the neuromuscular deficits caused by STAM1 deficiency.Current research in neurobiology · 2024Article
- Termination of STING responses is mediated via ESCRT-dependent degradation.The EMBO journal · 2023Article
- Diminished Neuronal ESCRT-0 Function Exacerbates AMPA Receptor Derangement and Accelerates Prion-Induced Neurodegeneration.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- A new Hoxb8FlpO mouse line for intersectional approaches to dissect developmentally defined adult sensorimotor circuits.Frontiers in molecular neuroscience · 2023Article
- Axonal transport of Hrs is activity dependent and facilitates synaptic vesicle protein degradation.Life science alliance · 2022Article
- Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- The ESCRT-0 subcomplex component Hrs/Hgs is a master regulator of myogenesis via modulation of signaling and degradation pathways.BMC biology · 2021Article
- Hepatocyte growth factor-regulated tyrosine kinase substrate is essential for endothelial cell polarity and cerebrovascular stability.Cardiovascular research · 2021Article
- Soluble 4R0N Tau Abrogates Endocytic Vesicular Dynamics.Frontiers in aging neuroscience · 2020Article
- Vesicular degradation pathways in neurons: at the crossroads of autophagy and endo-lysosomal degradation.Current opinion in neurobiology · 2019Review
- Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.Scientific reports · 2019Article
- Coordination of synaptic vesicle trafficking and turnover by the Rab35 signaling network.Small GTPases · 2019Review
- Endolysosomal degradation of Tau and its role in glucocorticoid-driven hippocampal malfunction.The EMBO journal · 2018Article
- The effect of bone marrow mesenchymal stem cells on recovery of skeletal muscle after neurotization surgery in rat.Iranian journal of basic medical sciences · 2018Article
- PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.American journal of human genetics · 2017Article
- Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Molecular neurobiology · 2017Review
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
Abstract
Neurons are particularly vulnerable to perturbations in endo-lysosomal transport, as several neurological disorders are caused by a primary deficit in this pathway. In this report, we used positional cloning to show that the spontaneously occurring neurological mutation teetering (tn) is a single nucleotide substitution in hepatocyte growth factor-regulated tyrosine kinase substrate (Hgs/Hrs), a component of the endosomal sorting complex required for transport (ESCRT). The tn mice exhibit hypokenesis, muscle weakness, reduced muscle size and early perinatal lethality by 5-weeks of age. Although HGS has been suggested to be essential for the sorting of ubiquitinated membrane proteins to the lysosome, there were no alterations in receptor tyrosine kinase levels in the central nervous system, and only a modest decrease in tropomyosin receptor kinase B (TrkB) in the sciatic nerves of the tn mice. Instead, loss of HGS resulted in structural alterations at the neuromuscular junction (NMJ), including swellings and ultra-terminal sprouting at motor axon terminals and an increase in the number of endosomes and multivesicular bodies. These structural changes were accompanied by a reduction in spontaneous and evoked release of acetylcholine, indicating a deficit in neurotransmitter release at the NMJ. These deficits in synaptic transmission were associated with elevated levels of ubiquitinated proteins in the synaptosome fraction. In addition to the deficits in neuronal function, mutation of Hgs resulted in both hypermyelinated and dysmyelinated axons in the tn mice, which supports a growing body of evidence that ESCRTs are required for proper myelination of peripheral nerves. Our results indicate that HGS has multiple roles in the nervous system and demonstrate a previously unanticipated requirement for ESCRTs in the maintenance of synaptic transmission.
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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.