Article
Latch and trigger role for R445 in DAT transport explains molecular basis of DTDS.
Bioorganic & medicinal chemistry letters - 1 Feb 2018
Reith Maarten E A, Jones Kymry T, Zhen Juan, Topiol Sid
Abstract excerpt
A recent study reports on five different mutations as sources of dopamine transporter (DAT) deficiency syndrome (DTDS). One of these mutations, R445C, is believed to be located on the intracellular side of DAT distal to the primary (S1) or secondary (S2) sites to which substrate binding is understood to occur. Thus, the molecular mechanism by which the R445C mutation results in DAT transport deficiency has eluded...
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