Article
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family.
Molecular medicine (Cambridge, Mass.) - 1 Aug 2002
Baron Dana, Assaraf Yehuda G, Cohen Nadine, Aronheim Ami
Abstract excerpt
BACKGROUND: Rogers syndrome, also known as thiamine responsive megaloblastic anemia (TRMA), is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus and sensorineural deafness. The gene associated with Rogers syndrome encodes for a plasma membrane thiamine transporter, THTR-1, a member of the solute carrier family that includes its homologue THTR-2 and the reduced folate carrier....
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