Article
EGFP tags affect cellular localization of ATP7B mutants.
CNS neuroscience & therapeutics - 1 May 2013
Zhu Min, Ni Wang, Dong Yi, Wu Zhi-Ying
Abstract excerpt
AIMS: Wilson's disease is an autosomal recessive disorder of copper metabolism due to mutations within ATP7B gene. Clinical investigations indicate that ATP7B truncations are associated with an early age of onset when compared to its missense mutations. In vitro studies show that mislocalization of ATP7B mutants is involved in disease-causing mechanisms. Enhanced green fluorescent protein (EGFP) tags are commonly...
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