Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism

Triple A syndrome is a rare autosomal recessive disorder characterized by ACTH-resistant adrenal failure, alacrima, achalasia, and progressive neurological manifestations. The majority of cases are associated with mutations in the AAAS gene, which encodes a novel, 60-kDa WD-repeat nuclear pore prote...

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Detalhes bibliográficos
Publicado no:Mol Endocrinol
Main Authors: Storr, Helen L., Kind, Barbara, Parfitt, David A., Chapple, J. Paul, Lorenz, M., Koehler, Katrin, Huebner, Angela, Clark, Adrian J. L.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2009
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5419132/
https://ncbi.nlm.nih.gov/pubmed/19855093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/me.2009-0056
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