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Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intolerance
SLC7A7 deficiency, or lysinuric protein intolerance (LPI), causes loss of function of the y(+)LAT1 transporter critical for efflux of arginine, lysine and ornithine in certain cells. LPI is characterized by urea cycle dysfunction, renal disease, immune dysregulation, growth failure, delayed bone age...
Autores principales: | Stroup, Bridget M., Li, Xiaohui, Ho, Sara, Zhouyao, Haonan, Chen, Yuqing, Ani, Safa, Dawson, Brian, Jin, Zixue, Marom, Ronit, Jiang, Ming-Ming, Lorenzo, Isabel, Rosen, Daniel, Lanza, Denise, Aceves, Nathalie, Koh, Sara, Seavitt, John R., Heaney, Jason D., Lee, Brendan, Burrage, Lindsay C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Company of Biologists Ltd
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10445726/ https://www.ncbi.nlm.nih.gov/pubmed/37486182 http://dx.doi.org/10.1242/dmm.050118 |
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