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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Pubblicato in:Am J Pathol
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Investigative Pathology 2016
Soggetti:
Regular Article
Accesso online: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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