Severe Biallelic Loss-of-function Mutations in Nicotinamide Mononucleotide Adenylyltransferase 2 (NMNAT2) in Two Fetuses with Fetal Akinesia Deformation Sequence

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 prov...

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Detalhes bibliográficos
Publicado no:Exp Neurol
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6708453/
https://ncbi.nlm.nih.gov/pubmed/31136762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.expneurol.2019.112961
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