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

doi:10.1093/hmg/ddaa107

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

Human molecular genetics - 3 Aug 2020

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

Abstract excerpt

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, renal disease, pulmonary alveolar proteinosis, autoimmune disorders and osteoporosis, are limited. Given the early...

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PMID: 32504080
DOI: 10.1093/hmg/ddaa107
PMCID: PMC7399531

Genes

F2
SLC7A7

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