The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.

doi:10.1242/dmm.020263

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The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.

Disease models & mechanisms - 1 Jan 2016

Fieten Hille, Gill Yadvinder, Martin Alan J, Concilli Mafalda, Dirksen Karen, van Steenbeek Frank G, Spee Bart, van den Ingh Ted S G A M, Martens Ellen C C P, Festa Paola, Chesi Giancarlo, van de Sluis Bart, Houwen Roderick H J H, Watson Adrian L, Aulchenko Yurii S, Hodgkinson Victoria L, Zhu Sha, Petris Michael J, Polishchuk Roman S, Leegwater Peter A J, Rothuizen Jan

Abstract excerpt

The deleterious effects of a disrupted copper metabolism are illustrated by hereditary diseases caused by mutations in the genes coding for the copper transporters ATP7A and ATP7B. Menkes disease, involving ATP7A, is a fatal neurodegenerative disorder of copper deficiency. Mutations in ATP7B lead to Wilson disease, which is characterized by a predominantly hepatic copper accumulation. The low incidence and the...

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PMID: 26747866
DOI: 10.1242/dmm.020263
PMCID: PMC4728329

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