Homocystinuria

Sequence motif crucial for binding adenosyl derivatives

Published in Drug Week, February 6th, 2004

CBS domains were originally identified as sequence motifs occurring within cystathione beta-synthase (CBS) and several other proteins, and they occur in all organisms from bacteria to humans.

While their functions were unknown, point mutations within these domains were known to cause several hereditary diseases including homocystinuria, Bartter syndrome, retinitis pigmentosa and Wolff-Parkinson-White syndrome.

In the Journal of Clinical Investigation, D. Grahame Hardie and colleagues from the University of Dundee, Scotland, filled in the missing link and demonstrated that pairs of CBS sequences - known as Bateman domains - derived from a...

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Source: Drug Week (2004-02-06)

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