Video Experimental Relacionado

Updated: Sep 10, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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Las mutaciones SLC6A19 que causan la enfermedad de Hartnup conducen a un tráfico aberrante de B0AT1 y una

Nesreen F Alkhofash1, Bassam R Ali1,2

  • 1Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.

Frontiers in cell and developmental biology
|August 25, 2025
PubMed
Resumen

Las mutaciones de la enfermedad de Hartnup en el transportador B0AT1 causan retención en el retículo endoplasmático, interrumpiendo el transporte de aminoácidos y afectando el tráfico de ACE2. Esto afecta la absorción de nutrientes y potencialmente las funciones de ACE2 más allá del sistema renina-angiotensina.

Palabras clave:
Acero en suspensiónLas variantes de ACE2En el caso de losLas variantes B0AT1Variantes mutantes retenidas por EREl retículo endoplasmáticoModuladores moleculareslocalización subcelular

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