Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees

Abstract Background GTPBP3 catalyzes τm5(s2) U biosynthesis at the 34th wobble position of mitochondrial tRNAs, the hypomodification of τm5U leads to mitochondrial disease. While twenty-three variants of GTPBP3 have been reported worldwide, the genetic landscape in China remains uncertain. Methods B...

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Bibliographic Details
Main Authors: Yaojun Xie, Keyi Li, Li Yang, Xiaofei Zeng, Zhehui Chen, Xue Ma, Luyi Zhang, Yuwei Zhou, Liqin Jin, Yanling Yang, Xiaoting Lou
Format: Article
Language:English
Published: BMC 2024-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Mitochondrial diseases
Oxidative phosphorylation
GTPBP3
Genetic hotspot
τm5(s2)U modification
Online Access:https://doi.org/10.1186/s13023-024-03469-3
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