A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance

Lysinuric protein intolerance (LPI) is an inborn error of cationic amino acid (arginine, lysine, ornithine) transport caused by biallelic pathogenic variants in SLC7A7, which encodes the light subunit of the y(+)LAT1 transporter. Treatments for the complications of LPI, including growth failure, ren...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Hum Mol Genet
Main Authors: Stroup, Bridget M, Marom, Ronit, Li, Xiaohui, Hsu, Chih-Wei, Chang, Cheng-Yen, Truong, Luan D, Dawson, Brian, Grafe, Ingo, Chen, Yuqing, Jiang, Ming-Ming, Lanza, Denise, Green, Jennie Rose, Sun, Qin, Barrish, J P, Ani, Safa, Christiansen, Audrey E, Seavitt, John R, Dickinson, Mary E, Kheradmand, Farrah, Heaney, Jason D, Lee, Brendan, Burrage, Lindsay C
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2020
Assuntos:
General Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7399531/
https://ncbi.nlm.nih.gov/pubmed/32504080
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa107
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares