NIH R01 · 2025
Charcot-Marie-Tooth Disease Type 2E: Mechanism and therapy
ABSTRACT Neurofilaments (NFs) are abundant cytoskeletal polymers in neurons that function as space-filling structures to expand axonal caliber, which is a critical determinant of axonal conduction velocity. NFs assemble in the neuronal soma and are transported into axons, where they accumulate excessively in many neurodegenerative diseases, leading to axonal swelling and enlargement. In addition, mutations in one of the NF subunit proteins, NFL, cause the hereditary sensory and motor neuropathy known as Charcot-Marie-Tooth disease type 2E (CMT2E). Most CMT2E mutations are dominantly inherited missense mutations. Here we propose three aims to elucidate the disease mechanism of CMT2E and…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.