Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

Lysinuric protein intolerance (LPI) is a rare autosomal disease caused by defective cationic amino acid (CAA) transport due to mutations in SLC7A7, which encodes for the y(+)LAT1 transporter. LPI patients suffer from a wide variety of symptoms, which range from failure to thrive, hyperammonemia, and...

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Detalles Bibliográficos
Autores principales: Bodoy, Susanna, Sotillo, Fernando, Espino-Guarch, Meritxell, Sperandeo, Maria Pia, Ormazabal, Aida, Zorzano, Antonio, Sebastio, Gianfranco, Artuch, Rafael, Palacín, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862226/
https://www.ncbi.nlm.nih.gov/pubmed/31653080
http://dx.doi.org/10.3390/ijms20215294

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862226/
https://www.ncbi.nlm.nih.gov/pubmed/31653080
http://dx.doi.org/10.3390/ijms20215294

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