NT5E Mutations That Cause Human Disease Are Associated with Intracellular Mistrafficking of NT5E Protein

Ecto-5′-nucleotidase/CD73/NT5E, the product of the NT5E gene, is the dominant enzyme in the generation of adenosine from degradation of AMP in the extracellular environment. Nonsense (c.662C→A, p.S221X designated F1, c.1609dupA, p.V537fsX7 designated F3) and missense (c.1073G→A, p.C358Y designated F...

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Detalles Bibliográficos
Autores principales: Fausther, Michel, Lavoie, Elise G., Goree, Jessica R., Baldini, Giulia, Dranoff, Jonathan A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041762/
https://www.ncbi.nlm.nih.gov/pubmed/24887587
http://dx.doi.org/10.1371/journal.pone.0098568

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4041762/
https://www.ncbi.nlm.nih.gov/pubmed/24887587
http://dx.doi.org/10.1371/journal.pone.0098568

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