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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Bibliographische Detailangaben
Veröffentlicht in:Am J Pathol
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2016
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Regular Article
Online Zugang: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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