Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.

Abstract excerpt

The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardiovascular- and skeletal systems, and is caused by mutations in the ATP7A copper transporter. Certain ATP7A mutations also cause X-linked Spinal Muscular Atrophy type 3...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cation Transport Proteins
• Share to Copper-Transporting ATPases