Article
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
Experimental neurology - 1 Oct 2019
Lukacs Marshall, Gilley Jonathan, Zhu Yi, Orsomando Giuseppe, Angeletti Carlo, Liu Jiaqi, Yang Xiuna, Park Joun, Hopkin Robert J, Coleman Michael P, Zhai R Grace, Stottmann Rolf W
Abstract excerpt
The three nicotinamide mononucleotide adenylyltransferase (NMNAT) family members synthesize the electron carrier nicotinamide adenine dinucleotide (NAD+) and are essential for cellular metabolism. In mammalian axons, NMNAT activity appears to be required for axon survival and is predominantly provided by NMNAT2. NMNAT2 has recently been shown to also function as a chaperone to aid in the refolding of misfolded...
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