ABCC6

The ABCC6 Gene and Gene Patenting

This article first appeared in the October 2010 eNewsletter.
Updated 09/15/2020

 

History of the ABCC6 gene

Since its founding in 1995, PXE International has been a catalyst in just about all research on pseudoxanthoma elasticum (PXE). When the Terry’s children were diagnosed in 1994, it was immediately clear to them that there was a need to bring the community together around one goal - finding a way to mitigate the suffering endured by people affected by PXE.

Oct 28, 2011 PXE News

October 28, 2011
Rescue of ABCC6 Disease-Causing Mutations in Mouse Liver
In a very complex experiment, a team of PXE researchers led by Dr. Váradi and Dr. Le Saux were able to rescue some function in an ABCC6 gene with disease-causing mutations in a live mouse liver. This news is very exciting and may have some application to a future therapy for pseudoxanthoma elasticum in humans.

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