Research Topics

Genomes and Genes

Species

Ronald K H Liem

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. 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. ..
  2. 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. ..
  3. Zhao J, Liem R. α-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. ..