Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro

Z Jia, F Meng, H Chen, G Zhu, X Li, Y He… - Nucleic Acids …, 2022 - academic.oup.com
Pseudouridine (Ψ) at position 55 in tRNAs plays an important role in their structure and
function. This modification is catalyzed by TruB/Pus4/Cbf5 family of pseudouridine …

[HTML][HTML] Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review

FW van den Dolder, R Dinani, VAJ Warnaar… - JACC: Basic to …, 2025 - Elsevier
To advance research in hypertrophic cardiomyopathy (HCM), and guide researchers in
choosing the optimal model to answer their research questions, we performed a systematic …

Genetic Mutations and Mitochondrial Redox Signaling as Modulating Factors in Hypertrophic Cardiomyopathy: A Scoping Review

AS Menezes Junior, ALG França-e-Silva… - International Journal of …, 2024 - mdpi.com
Hypertrophic cardiomyopathy (HCM) is a heart condition characterized by cellular and
metabolic dysfunction, with mitochondrial dysfunction playing a crucial role. Although the …

FARS2 deficiency in Drosophila reveals the developmental delay and seizure manifested by aberrant mitochondrial tRNA metabolism

W Fan, X Jin, M Xu, Y Xi, W Lu, X Yang… - Nucleic acids …, 2021 - academic.oup.com
Mutations in genes encoding mitochondrial aminoacyl-tRNA synthetases are linked to
diverse diseases. However, the precise mechanisms by which these mutations affect …

A personalized mRNA signature for predicting hypertrophic cardiomyopathy applying machine learning methods

J Gu, Y Zhao, Y Ben, S Zhang, L Hua, S He, R Liu… - Scientific Reports, 2024 - nature.com
Hypertrophic cardiomyopathy (HCM) may lead to cardiac dysfunction and sudden death.
This study was designed to develop a HCM signature applying bioinformatics and machine …

Vasorin deficiency leads to cardiac hypertrophy by targeting MYL7 in young mice

J Sun, X Guo, P Yu, J Liang, Z Mo… - Journal of Cellular …, 2022 - Wiley Online Library
Vasorin (VASN) is an important transmembrane protein associated with development and
disease. However, it is not clear whether the death of mice with VASN deficiency (VASN−/−) …

Deficiency of adipose triglyceride lipase induces metabolic syndrome and cardiomyopathy in zebrafish

HH Lai, KY Yeh, HM Hsu, GM Her - International Journal of Molecular …, 2022 - mdpi.com
Lipid metabolism dysfunction is related to clinical disorders including obesity, cancer, liver
steatosis, and cardiomyopathy. Impaired lipolytic enzymes result in altered release of free …

Mechanistic insights into mitochondrial tRNAAla 3'-end metabolism deficiency

Y Ji, Z Nie, F Meng, C Hu, H Chen, L Jin… - Journal of Biological …, 2021 - ASBMB
Mitochondrial tRNA 3'-end metabolism is critical for the formation of functional tRNAs.
Deficient mitochondrial tRNA 3'-end metabolism is linked to an array of human diseases …

Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases

JL Lu, Y Dai, K Ji, GX Peng, H Li, C Yan… - Nucleic Acids …, 2024 - academic.oup.com
E scherichia c oli MnmE and MnmG form a complex (Ec MnmEG), generating transfer RNA
(tRNA) 5-carboxymethylaminomethyluridine (cmnm5U) modification. Both cmnm5U and …

FARS2 Deficiency Causes Cardiomyopathy by Disrupting Mitochondrial Homeostasis and the Mitochondrial Quality Control System

B Li, F Liu, X Chen, T Chen, J Zhang, Y Liu, Y Yao… - Circulation, 2024 - Am Heart Assoc
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common heritable heart disease.
Although HCM has been reported to be associated with many variants of genes involved in …