Article
Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
European journal of biochemistry - 1 Nov 2003
Baron Dana, Assaraf Yehuda G, Drori Stavit, Aronheim Ami
Abstract excerpt
Rogers syndrome is an autosomal recessive disorder resulting in megaloblastic anemia, diabetes mellitus, and sensorineural deafness. The gene associated with this disease encodes for thiamine transporter 1 (THTR1), a member of the SLC19 solute carrier family including THTR2 and the reduced folate carrier (RFC). Using transient transfections into NIH3T3 cells of a D93H mutant THTR1derived from a Rogers syndrome...
Topics
- Amino Acid Sequence
- Anemia, Megaloblastic
- Animals
- Aspartic Acid
- Biological Transport
- Cell Line
- Cell Membrane
- Conserved Sequence
- Diabetes Complications
- Diabetes Mellitus
- Glycosylation
- Hearing Loss, Sensorineural
- Humans
- Membrane Transport Proteins
- Mice
- Mutation
- Protein Transport
- Syndrome