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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: 2019
Assuntos:
Article
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares