Article
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
Human mutation - 1 Apr 2011
Torres-Torronteras Javier, Rodriguez-Palmero Agustí, Pinós Tomàs, Accarino Anna, Andreu Antoni L, Pintos-Morell Guillem, Martíí Ramon
Abstract excerpt
The cellular quality control systems enable surveillance and selective degradation of nonsense, nonstop, and no-go mRNAs. In the case of nonstop mRNA, different mechanisms of nonstop-mediated decay (NSD) have been described for bacteria, yeast and mammals, but the molecular consequences of nonstop mutations have been examined in only few cases of human disease. We describe a novel homozygous nonstop mRNA mutation...
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