Suchergebnisse - "EC 6.1.1.20"

PubPharm (541)

1

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

enthalten in: Circulation | 2024

von Li, B. | Liu, F. | Chen, X. | +10

2

Effects of unstable β-PheRS on food avoidance, growth, and development are suppressed by the appetite hormone CCHa2

enthalten in: Fly | 2024

von Brunßen, D. | Suter, B.

3

Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status : a new phenotype and literature review

enthalten in: BMC neurology | 2024

von Zhang, X. | Xiang, F. | Li, D. | +3

4

Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease

enthalten in: Molecular genetics and metabolism | 2023

von Chen, W. | Rehsi, P. | Thompson, K. | +8

5

Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine

enthalten in: Neuropediatrics | 2023

von Oswald, S. | Steinbrücker, K. | Achleitner, M. | +9

6

Phenylalanyl-tRNA synthetase deficiency caused by biallelic variants in FARSA gene and literature review

enthalten in: BMC medical genomics | 2023

von Guo, R. | Chen, Y. | Hu, X. | +4

7

Study of the Allosteric Mechanism of Human Mitochondrial Phenylalanyl-tRNA Synthetase by Transfer Entropy via an Improved Gaussian Network Model and Co-evolution Analyses

enthalten in: The journal of physical chemistry letters | 2023

von Han, Z. | Wang, X. | Wu, Z. | +1

8

A streamlined process for discovery and characterization of inhibitors against phenylalanyl-tRNA synthetase of Mycobacterium tuberculosis

enthalten in: Methods in enzymology | 2023

von Wang, H. | Chen, S.

9

Hedgehog pathway is negatively regulated during the development of Drosophila melanogaster PheRS-m (Drosophila homologs gene of human FARS2) mutants

enthalten in: Human cell | 2023

von Mo, L. | Li, R. | He, C. | +5

10

Genetic analysis of a child with combined oxidative phosphorylation deficiency 14 due to variant of FARS2 gene

enthalten in: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics | 2022

von Ma, J. | Zhang, H. | Lyu, Y. | +4

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