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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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导致哈特努普病的SLC6A19突变导致B0AT1异常贩运和ACE2错位,涉及到内分泌网膜蛋白质质量控制

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
概括

在B0AT1转运器中发生的哈特努普病突变会导致内质网膜保留,扰乱氨基酸运输并影响ACE2的流通. 这会影响营养吸收和ACE2功能.

关键词:
在ACE2中ACE2 的变种时间:B0AT1变种保持ER的突变变种细胞内膜网分子调制器亚细胞局部化

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