Hartnup disease-causing SLC6A19 mutations lead to B0AT1 aberrant trafficking and ACE2 mis-localisation implicating the endoplasmic reticulum protein quality control

IntroductionThe interaction between angiotensin-converting enzyme 2 (ACE2) and the sodium-dependent Broad neutral Amino acid Transporter 1 (B0AT1), encoded by the SLC6A19 gene, is increasingly recognized as pivotal in both physiological and pathological contexts. B0AT1 facilitates neutral amino acid...

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Bibliographic Details

Published in:	Frontiers in Cell and Developmental Biology
Main Authors:	Nesreen F. Alkhofash, Bassam R. Ali
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-08-01
Subjects:	ACE2 B0AT1 ACE2 variants B0AT1 variants sub-cellular localization molecular modulators
Online Access:	https://www.frontiersin.org/articles/10.3389/fcell.2025.1589534/full