NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, t...

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Pubblicato in:Am J Hum Genet
Autori principali: Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, Lohmeier, Klaus, Schneider, Dominik, Klee, Dirk, Rokicki, Dariusz, Mayatepek, Ertan, Strom, Tim M., Meitinger, Thomas, Klopstock, Thomas, Pronicka, Ewa, Mayr, Johannes A., Baric, Ivo, Distelmaier, Felix, Prokisch, Holger
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065653/
https://ncbi.nlm.nih.gov/pubmed/27616477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.018
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