C9orf72; abnormal RNA expression is the key. Peter Heutink, Iris E. Jansen, Emily M. Lynes, Experimental Neurology, Available online 27 May 2014, ISSN 0014-4886, http://dx.doi.org/10.1016/j.expneurol.2014.05.020.
Despite differences with Friedreich's ataxia, hexanucleotide repeat instead of trinucleotide repeat...., it could be many points in common with the FA, as the loss of protein expression and toxic RNA species. It is interesting the authors's hypothesis about the mechanisms leading to pathology.
Saturday, May 31, 2014
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