Article
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
The American journal of pathology - 1 Jul 2016
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
Abstract excerpt
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 with Leber congenital amaurosis, a severe retinal degenerative disease that causes blindness during infancy....
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