Article
CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B.
PloS one - 1 Jan 2020
Pöhler Michael, Guttmann Sarah, Nadzemova Oksana, Lenders Malte, Brand Eva, Zibert Andree, Schmidt Hartmut H, Sandfort Vanessa
Abstract excerpt
Wilson's disease (WD) is a monogenetic liver disease that is based on a mutation of the ATP7B gene and leads to a functional deterioration in copper (Cu) excretion in the liver. The excess Cu accumulates in various organs such as the liver and brain. WD patients show clinical heterogeneity, which can range from acute or chronic liver failure to neurological symptoms. The course of the disease can be improved by a...
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