Functional Assessment of Lipoyltransferase-1 Deficiency in Cells, Mice, and Humans

Inborn errors of metabolism (IEMs) link metabolic defects to human phenotypes. Modern genomics has accelerated IEM discovery, but assessing the impact of genomic variants is still challenging. Here, we integrate genomics and metabolomics to identify a cause of lactic acidosis and epilepsy. The proba...

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Publicado no:Cell Rep
Main Authors: Ni, Min, Solmonson, Ashley, Pan, Chunxiao, Yang, Chendong, Li, Dan, Notzon, Ashley, Cai, Ling, Guevara, Gerardo, Zacharias, Lauren G., Faubert, Brandon, Vu, Hieu S., Jiang, Lei, Ko, Bookyung, Morales, Noriko Merida, Pei, Jimin, Vale, Gonçalo, Rakheja, Dinesh, Grishin, Nick V., McDonald, Jeffrey G., Gotway, Garrett K., McNutt, Markey C., Pascual, Juan M., DeBerardinis, Ralph J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7351313/
https://ncbi.nlm.nih.gov/pubmed/31042466
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.celrep.2019.04.005
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