Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

More than 20 years have passed since the identification of <i>SLC3A1</i> and <i>SLC7A9</i> as causative genes for cystinuria. However, cystinuria patients exhibit significant variability in the age of lithiasis onset, recurrence, and response to treatment, suggesting the pres...

Full description

Bibliographic Details
Main Authors: Clara Mayayo-Vallverdú, Esther Prat, Marta Vecino-Pérez, Laura González, Silvia Gràcia-Garcia, Luz San Miguel, Noelia Lopera, Angela Arias, Rafael Artuch, Miguel López de Heredia, Carlos Torrecilla, Ferran Rousaud-Barón, Oriol Angerri, Ekaitz Errasti-Murugarren, Virginia Nunes
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:International Journal of Molecular Sciences
Subjects:
cystinuria
cystine transporter
rare disease
<i>SLC7A13</i> variants
functional analysis
Online Access:https://www.mdpi.com/1422-0067/24/24/17140

Internet

https://www.mdpi.com/1422-0067/24/24/17140

Similar Items