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Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein
Owing to mutations in the copper‐transporting P‐type ATPase, ATP7A (or MNK), patients with Menkes disease (MD) have an inadequate supply of copper to various copper‐dependent enzymes. The ATP7A protein is located in the trans‐Golgi network, where it transports copper via secretory compartments to co...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2597975/ https://ncbi.nlm.nih.gov/pubmed/17483305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.049627 |
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