Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease
ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles trigger Menkes disease, a copper deficiency c...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2015-09-01
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| coleção: | Neurobiology of Disease |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S0969996114003957 |
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