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Updated: Sep 10, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

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ハートナップ病を引き起こすSLC6A19変異は,B0AT1の異変とACE2の誤局を誘導し,エンドプラズマ網膜タンパク質の品質管理を伴う

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
まとめ

B0AT1トランスポーターのハートナップ病変は,エンドプラズマ網膜の保持を引き起こし,アミノ酸の輸送を妨害し,ACE2の流通に影響します. これはレニン- 血管新生系を超えて栄養吸収とACE2機能に影響します.

キーワード:
ACE2 についてACE2の変種B0AT1 についてB0AT1 変種ERに保持された変異変種エンドプラズマの網膜分子調節器サブセルロースの位置づけ

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