Identification of a novel transthyretin mutation D39Y in a cardiac amyloidosis patient and its biochemical characterizations

Identification of a novel transthyretin mutation D39Y in a cardiac amyloidosis patient and its biochemical characterizations

Hereditary transthyretin cardiac amyloidosis (hATTR-CA) is a rare autosomal dominantly inherited disease caused by mutations in the transthyretin (TTR) gene. TTR mutations often cause the instability of transthyretin, production of misfolded proteins, and ultimately excessive deposition of insoluble...

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Bibliographic Details
Main Authors: Qunchao Ma, Mengdie Wang, Yanan Huang, Ying Nie, Xin Zhang, Dan Dan Yang, Zhuo Wang, Siyin Ding, Ningjing Qian, Yu Liu, Xiaohong Pan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
cardiac amyloidosis
novel mutation
stability
transthyretin
tetramer concentration
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1091183/full

Internet

https://www.frontiersin.org/articles/10.3389/fcvm.2023.1091183/full

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