Title : TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

Pub. Date : 2008 May

PMID : 18396105






1 Functional Relationships(s)
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1 INTERPRETATION: The Gly290Ala and Gly298Ser mutations are located in the glycine-rich domain of TDP-43, which regulates gene expression and mediates protein-protein interactions such as those with heterogeneous ribonucleoproteins. Glycine TAR DNA binding protein Homo sapiens