ArticleGenes, brain, and behavior2012
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
Article in Genes, brain, and behavior, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Novel neurofilament light (Nefl) E397K mouse models of Charcot-Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy.Human molecular genetics · 2025Article
- Article
- Neurofilaments in health and Charcot-Marie-Tooth disease.Frontiers in cell and developmental biology · 2023Review
- Muscle spindle alterations precede onset of sensorimotor deficits in Charcot-Marie-Tooth type 2E.Genes, brain, and behavior · 2017Article
- Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.Brain : a journal of neurology · 2016Article
- Exacerbation of Charcot-Marie-Tooth type 2E neuropathy following traumatic nerve injury.Brain research · 2015Article
- Autonomous requirements of the Menkes disease protein in the nervous system.American journal of physiology. Cell physiology · 2015Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Charcot-Marie-Tooth disease (CMT) is the most commonly inherited peripheral neuropathy. CMT disease signs include distal limb neuropathy, abnormal gaiting, exacerbation of neuropathy, sensory defects and deafness. We generated a novel line of CMT2E mice expressing an hNF-L(E397K) transgene, which displayed muscle atrophy of the lower limbs without denervation, proximal reduction in large caliber axons and decreased nerve conduction velocity. In this study, we showed that hNF-L(E397K) mice developed abnormal gait of the hind limbs. The identification of severe gaiting defects in combination with previously observed muscle atrophy, reduced axon caliber and decreased nerve conduction velocity suggests that hNF-L(E397K) mice recapitulate many of clinical signs associated with CMT2E. Therefore, hNF-L(E397K) mice provide a context for potential therapeutic intervention.
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Registered trials
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