ArticleJournal of neuropathology and experimental neurology2016
Structural and Functional Abnormalities of the Neuromuscular Junction in the Trembler-J Homozygote Mouse Model of Congenital Hypomyelinating Neuropathy.
Article in Journal of neuropathology and experimental neurology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Neuromuscular monitoring of a patient with Charcot-Marie-Tooth disease; which monitoring technique is adequate? - A case report and literature review.Anesthesia and pain medicine · 2024Article
- Implantable Electroceutical Approach Improves Myelination by Restoring Membrane Integrity in a Mouse Model of Peripheral Demyelinating Neuropathy.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2022Article
- Structure and Function of the Mammalian Neuromuscular Junction.Comprehensive Physiology · 2022Article
- Sam68 splicing regulation contributes to motor unit establishment in the postnatal skeletal muscle.Life science alliance · 2020Article
- Developmental demands contribute to early neuromuscular degeneration in CMT2D mice.Cell death & disease · 2020Article
- Article
- HSP90 Inhibitor, NVP-AUY922, Improves Myelination in Vitro and Supports the Maintenance of Myelinated Axons in Neuropathic Mice.ACS chemical neuroscience · 2019Article
- Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C.International journal of molecular sciences · 2018Article
- Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype.Neurology. Genetics · 2018Article
- Differentiation of Human Tonsil-Derived Mesenchymal Stem Cells into Schwann-Like Cells Improves Neuromuscular Function in a Mouse Model of Charcot-Marie-Tooth Disease Type 1A.International journal of molecular sciences · 2018Article
- A Novel Striated Muscle-Specific Myosin-Blocking Drug for the Study of Neuromuscular Physiology.Frontiers in cellular neuroscience · 2016Article
- Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22.The Journal of biological chemistryArticle
- From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.Journal of tissue engineeringReview
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Mutations in peripheral myelin protein 22 (PMP22) result in the most common form of Charcot-Marie-Tooth (CMT) disease, CMT1A. This hereditary peripheral neuropathy is characterized by dysmyelination of peripheral nerves, reduced nerve conduction velocity, and muscle weakness. APMP22 point mutation in L16P (leucine 16 to proline) underlies a form of human CMT1A as well as the Trembler-J mouse model of CMT1A. Homozygote Trembler-J mice (Tr(J)) die early postnatally, fail to make peripheral myelin, and, therefore, are more similar to patients with congenital hypomyelinating neuropathy than those with CMT1A. Because recent studies of inherited neuropathies in humans and mice have demonstrated that dysfunction and degeneration of neuromuscular synapses or junctions (NMJs) often precede impairments in axonal conduction, we examined the structure and function of NMJs in Tr(J)mice. Although synapses appeared to be normally innervated even in end-stage Tr(J)mice, the growth and maturation of the NMJs were altered. In addition, the amplitudes of nerve-evoked muscle endplate potentials were reduced and there was transmission failure during sustained nerve stimulation. These results suggest that the severe congenital hypomyelinating neuropathy that characterizes Tr(J)mice results in structural and functional deficits of the developing NMJ.
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