{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:54:08Z","timestamp":1779929648600,"version":"3.53.1"},"reference-count":30,"publisher":"Oxford University Press (OUP)","issue":"18","license":[{"start":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T00:00:00Z","timestamp":1752105600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Charcot\u2013Marie-Tooth Research Foundation","award":["00070082"],"award-info":[{"award-number":["00070082"]}]},{"name":"MU Life Sciences Fellowship"},{"name":"National Institutes of Health Training","award":["T32 GM008396"],"award-info":[{"award-number":["T32 GM008396"]}]},{"name":"National Institutes of Health Training","award":["T34 GM136493"],"award-info":[{"award-number":["T34 GM136493"]}]},{"name":"MU Cherng Summer Scholars Program"},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Charcot\u2013Marie-Tooth (CMT) is the most common hereditary peripheral neuropathy with an incidence of 1:2500. CMT2 clinical symptoms include distal muscle weakness and atrophy, sensory loss, toe and foot deformities, with some patients presenting with reduced nerve conduction velocity. Mutations in the neurofilament light chain (NEFL) gene result in a specific form of CMT2 disease, CMT2E. NEFL encodes the protein, NF-L, one of the core intermediate filament proteins that contribute to the maintenance and stability of the axonal cytoskeleton. To better understand the underlying biology of CMT2E disease and advance the development of therapeutics, we generated a Nefl+\/E397K mouse model. While the Nefl+\/E397K mutation is inherited in a dominant manner, we also characterized NeflE397K\/E397K mice to determine whether disease onset, progression or severity would be impacted. Consistent with CMT2E, lifespan was not altered in these novel mouse models. A longitudinal electrophysiology study demonstrated significant in vivo functional abnormalities as early as P21 in distal latency, compound muscle action potential (CMAP) amplitude and negative area. A significant reduction in the sciatic nerve axon area, diameter, and G-ratio was also present as early as P21. Through the twelve months measured, disease became more evident in all assessments. Collectively, these results demonstrate an early and robust in vivo electrophysiological phenotype and axonal pathology, making Nefl+\/E397K and NeflE397K\/E397K mice ideal for the evaluation of therapeutic approaches.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf116","type":"journal-article","created":{"date-parts":[[2025,6,27]],"date-time":"2025-06-27T08:03:32Z","timestamp":1751011412000},"page":"1541-1552","source":"Crossref","is-referenced-by-count":2,"title":["Novel neurofilament light (\n                    <i>Nefl<\/i>\n                    ) E397K mouse models of Charcot\u2013Marie-tooth type 2E (CMT2E) present early and chronic axonal neuropathy"],"prefix":"10.1093","volume":"34","author":[{"given":"Dennis O","family":"P\u00e9rez-L\u00f3pez","sequence":"first","affiliation":[{"name":"Department of Veterinary Pathobiology , University of Missouri, 201 Connaway Hall, 1500 Bouchelle Ave, Columbia, MO 65201"},{"name":"Bond Life Sciences Center , University of Missouri, 1201 Rollins St, Columbia, MO 65211"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey A","family":"Shively","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology , University of Missouri, 201 Connaway Hall, 1500 Bouchelle Ave, Columbia, MO 65201"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F Javier","family":"Llorente Torres","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology , University of Missouri, 201 Connaway Hall, 1500 Bouchelle Ave, Columbia, MO 65201"},{"name":"Bond Life Sciences Center , University of Missouri, 1201 Rollins St, Columbia, MO 65211"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed T","family":"Abu-Salah","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology , University of Missouri, 201 Connaway Hall, 1500 Bouchelle Ave, Columbia, MO 65201"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L","family":"Garcia","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences , University of Missouri, Tucker Hall, 105, 612 Hitt St, Columbia, MO 65201"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W David","family":"Arnold","sequence":"additional","affiliation":[{"name":"Department of Physical Medicine and Rehabilitation , University of Missouri, 1 Hospital Drive DC046.00, Columbia, MO 65212"},{"name":"NextGen Precision Health , University of Missouri, 1030 Hitt St, Columbia, MO 65211"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique A","family":"Lorson","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology , University of Missouri, 201 Connaway Hall, 1500 Bouchelle Ave, Columbia, MO 65201"},{"name":"Bond Life Sciences Center , University of Missouri, 1201 Rollins St, Columbia, MO 65211"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1023-2169","authenticated-orcid":false,"given":"Christian","family":"Lorson","sequence":"additional","affiliation":[{"name":"Department of Veterinary Pathobiology , University of Missouri, 201 Connaway Hall, 1500 Bouchelle Ave, Columbia, MO 65201"},{"name":"Bond Life Sciences Center , University of Missouri, 1201 Rollins St, Columbia, MO 65211"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,7,10]]},"reference":[{"key":"2026051307430871900_ref1","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1086\/302962","article-title":"A new variant of Charcot-Marie-tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene","volume":"67","author":"Mersiyanova","year":"2000","journal-title":"Am J Hum 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