Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

The nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) enzyme is essential for regenerating the nuclear pool of NAD(+) in all nucleated cells in the body, and mounting evidence also suggests that it has a separate role in neuroprotection. Recently, mutations in the NMNAT1 gene were associated wi...

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Detalhes bibliográficos
Publicado no:Am J Pathol
Main Authors: Greenwald, Scott H., Charette, Jeremy R., Staniszewska, Magdalena, Shi, Lan Ying, Brown, Steve D.M., Stone, Lisa, Liu, Qin, Hicks, Wanda L., Collin, Gayle B., Bowl, Michael R., Krebs, Mark P., Nishina, Patsy M., Pierce, Eric A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2016
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4929402/
https://ncbi.nlm.nih.gov/pubmed/27207593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2016.03.013
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