Adebola A, Di Castri T, He C, Salvatierra L, Zhao J, Brown K, et al. Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. Hum Mol Genet. 2015;24:2163-74 pubmed publisher
..The Nefl(N98S/+) mice provide an excellent model to study the pathogenesis of CMT2E and should prove useful for testing potential therapies. ..
Goryunov D, Liem R. Microtubule-Actin Cross-Linking Factor 1: Domains, Interaction Partners, and Tissue-Specific Functions. Methods Enzymol. 2016;569:331-53 pubmed publisher
..Further studies of MACF1 domains and their interactions will likely reveal multiple new roles of this protein in various tissues. ..
Zhao J, Liem R. Î±-Internexin and Peripherin: Expression, Assembly, Functions, and Roles in Disease. Methods Enzymol. 2016;568:477-507 pubmed publisher
..The functional significance of these isoforms is not clear. Peripherin is a major component found in inclusions of patients with amyotrophic lateral sclerosis (ALS) and peripherin expression is upregulated in ALS patients. ..