Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation

Clinical and biochemical characterization of hereditary transthyretin amyloidosis caused by E61K mutation

Objects: This study was intended to find out more about the clinical characterizations of patients carrying transthyretin (TTR) E61K (p.Glu81Lys) gene mutation and the biochemical characterization of this mutant protein.Materials and methods: Five patients who had been diagnosed with hereditary tran...

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Bibliographic Details
Main Authors: Xujun Chu, Mengdie Wang, Ran Tang, Yanan Huang, Jiaxi Yu, Yunfeng Cao, Yilei Zheng, Zhiying Xie, Jianwen Deng, Zhi Wang, Wei Ma, Wenjing Song, Yuan Wu, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Yu Liu, Lingchao Meng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-10-01
Series:Frontiers in Molecular Neuroscience
Subjects:
E61K mutation
kinetic stability
thermodynamic stability
TTR tetramer
kinetic stabilizers
ATTRv amyloidosis
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.1003303/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2022.1003303/full

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