LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

@article{Hakonen2017LRSAM1mediatedUI,
  title={LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.},
  author={Johanna E Hakonen and Vincenzo Sorrentino and Rossella Avagliano Trezza and Marit B de Wissel and Marlene van den Berg and Boris Bleijlevens and Fred van Ruissen and B. Distel and Frank Baas and Noam Zelcer and Marian A. J. Weterman},
  journal={Human molecular genetics},
  year={2017},
  volume={26 11},
  pages={2034-2041}
}
Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really Interesting New Gene finger (RING) domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal-type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for… CONTINUE READING