{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,28]],"date-time":"2026-05-28T00:59:24Z","timestamp":1779929964954,"version":"3.53.1"},"reference-count":116,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T00:00:00Z","timestamp":1724630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Charcot Marie Tooth Research Foundation"},{"name":"Research Institute at Nationwide Children\u2019s Hospital"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Charcot\u2013Marie\u2013Tooth type 1B (CMT1B) is a peripheral neuropathy caused by mutations in the gene encoding myelin protein zero (MPZ), a key component of the myelin sheath in Schwann cells. Mutations in the MPZ gene can lead to protein misfolding, unfolded protein response (UPR), endoplasmic reticulum (ER) stress, or protein mistrafficking. Despite significant progress in understanding the disease mechanisms, there is currently no effective treatment for CMT1B, with therapeutic strategies primarily focused on supportive care. Gene therapy represents a promising therapeutic approach for treating CMT1B. To develop a treatment and better design preclinical studies, an in-depth understanding of the pathophysiological mechanisms and animal models is essential. In this review, we present a comprehensive overview of the disease mechanisms, preclinical models, and recent advancements in therapeutic research for CMT1B, while also addressing the existing challenges in the field. This review aims to deepen the understanding of CMT1B and to encourage further research towards the development of effective treatments for CMT1B patients.<\/jats:p>","DOI":"10.3390\/ijms25179227","type":"journal-article","created":{"date-parts":[[2024,8,26]],"date-time":"2024-08-26T07:53:37Z","timestamp":1724658817000},"page":"9227","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Navigating the Landscape of CMT1B: Understanding Genetic Pathways, Disease Models, and Potential Therapeutic Approaches"],"prefix":"10.3390","volume":"25","author":[{"given":"Mary Kate","family":"McCulloch","sequence":"first","affiliation":[{"name":"Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital, 575 Children\u2019s Crossroad, Columbus, OH 43215, USA"},{"name":"Molecular, Cellular, and Developmental Biology Program, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatemeh","family":"Mehryab","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital, 575 Children\u2019s Crossroad, Columbus, OH 43215, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Afrooz","family":"Rashnonejad","sequence":"additional","affiliation":[{"name":"Center for Gene Therapy, The Abigail Wexner Research Institute at Nationwide Children\u2019s Hospital, 575 Children\u2019s Crossroad, Columbus, OH 43215, USA"},{"name":"Molecular, Cellular, and Developmental Biology Program, The Ohio State University, Columbus, OH 43210, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1002\/ana.22166","article-title":"Charcot-marie-tooth disease subtypes and genetic testing strategies","volume":"69","author":"Saporta","year":"2011","journal-title":"Ann. 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