Functional Characterization of <i>FH</i> Mutation c.557G>A Underlies Uterine Leiomyomas

Functional Characterization of <i>FH</i> Mutation c.557G>A Underlies Uterine Leiomyomas

The <i>FH</i> gene encodes the fumarate hydratase of the Krebs cycle and functions as a homotetramer to catalyze the hydration of fumarate to malate. Mutations in <i>FH</i> result in uterine leiomyomas, a rare autosomal dominant inherited metabolic disease. However, how <i...

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Bibliographic Details
Main Authors: Ping Li, Yanru Wu, Huizhi Wu, Qiuhong Xiong, Na Zhao, Guangxin Chen, Changxin Wu, Han Xiao
Format: Article
Language:English
Published: MDPI AG 2022-01-01
Series:International Journal of Molecular Sciences
Subjects:
uterine leiomyomas
FH
fumarase
mutation
mTOR
autophagy
Online Access:https://www.mdpi.com/1422-0067/23/3/1452

Internet

https://www.mdpi.com/1422-0067/23/3/1452

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