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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351313/
https://www.ncbi.nlm.nih.gov/pubmed/31042466
http://dx.doi.org/10.1016/j.celrep.2019.04.005

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