Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders
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DOI: 10.1002/humu.23889
Abstract: ATP8A2 is a P4‐ATPase (adenosine triphosphate) that actively flips phosphatidylserine and phosphatidylethanolamine from the exoplasmic to the cytoplasmic leaflet of cell membranes to generate and maintain phospholipid asymmetry. Mutations in the ATP8A2 gene have been… read more here.
Keywords: expression functional; functional characterization; missense mutations; atpase activity ... See more keywords