Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis

Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis

Abstract Background Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementa...

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Main Authors: Judith Giroud-Gerbetant, Fernando Sotillo, Gonzalo Hernández, Irene Ruano, David Sebastián, Joana Fort, Mayka Sánchez, Günter Weiss, Neus Prats, Antonio Zorzano, Manuel Palacín, Susanna Bodoy
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Molecular Medicine
Subjects:
Rare disease
Amino acids
Erythropoiesis
Kidney disease
Online Access:https://doi.org/10.1186/s10020-025-01100-0
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https://doi.org/10.1186/s10020-025-01100-0

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