Associated Papers
Arg339Gln Is a Recurrent Variant in Rare Combined Oxidative Phosphorylation Deficiency 4: A New Patient with Biallelic TUFM Gene Variant.
Tekmenuray-Unal A et al.
Molecular Syndromology, 2025
Disease models of Leigh syndrome: From yeast to organoids.
Henke MT et al.
Journal of Inherited Metabolic Disease, 2024
A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.
Gokalp S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2024
Molecular pathways in mitochondrial disorders due to a defective mitochondrial protein synthesis.
Antolínez-Fernández Á et al.
Frontiers in Cell and Developmental Biology, 2024
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.
Fangazio M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T et al.
Journal of Human Genetics, 2019
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Di Nottia M et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease.
Cao X et al.
Free Radical Biology & Medicine, 2016
The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex.
Valente L et al.
Biochimica Et Biophysica Acta, 2009
Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.
Ferreiro-Barros CC et al.
Journal of the Neurological Sciences, 2008
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu.
Valente L et al.
American Journal of Human Genetics, 2007