Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX)

ATP7A is a P-type ATPase essential for cellular copper (Cu) transport and homeostasis. Loss-of-function ATP7A mutations causing systemic Cu deficiency are associated with severe Menkes disease or its milder allelic variant, occipital horn syndrome. We previously identified two rare ATP7A missense mu...

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Detalhes bibliográficos
Publicado no:Metallomics
Main Authors: Perez-Siles, Gonzalo, Grant, Adrienne, Ellis, Melina, Ly, Carolyn, Kidambi, Aditi, Khalil, Mamdouh, Llanos, Roxana M., La Fontaine, Sharon, Strickland, Alleene V., Züchner, Stephan, Bermeo, Sandra, Neist, Elysia, Brennan-Speranza, Tara C., Takata, Reinaldo I., Speck-Martins, Carlos E., Mercer, Julian F.B., Nicholson, Garth A., Kennerson, Marina L.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5586149/
https://ncbi.nlm.nih.gov/pubmed/27293072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1039/c6mt00082g
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