Gene Symbol: TSFM
Description: Ts translation elongation factor, mitochondrial
Alias: EFTS, EFTSMT, elongation factor Ts, mitochondrial, EF-Ts, EF-TsMt, mitochondrial elongation factor Ts
Perli E, Pisano A, Glasgow R, Carbo M, Hardy S, Falkous G, et al
. Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement. Sci Rep. 2019;9:5108 pubmed publisher
..Whole exome sequencing revealed two novel compound heterozygous variants in the TSFM gene, coding for the mitochondrial translation elongation factor EF-Ts...
Wang X, Zhang X, Han Y, Shi X, Lan Z, Men X, et al
. Clinical efficacy of gamma knife and surgery treatment of mesial temporal lobe epilepsy and their effects on EF-Tumt and EF-Tsmt expression. Eur Rev Med Pharmacol Sci. 2017;21:1774-1779 pubmed
..05). Both surgery and gamma knife could treat MTLE effectively, and the efficacy may be related to the ability to reduce the expression of EF-Tsmt protein and EF-Tumt protein in brain tissue. ..
Xin H, Woriax V, Burkhart W, Spremulli L. Cloning and expression of mitochondrial translational elongation factor Ts from bovine and human liver. J Biol Chem. 1995;270:17243-9 pubmed
..coli elongation factor Tu. This complex is active in poly(U)-directed polymerization of phenylalanine. The precursor form is expressed as a 42-kDa protein, which is rapidly degraded in the cell. ..
Vernon J, Burr P, Wiley J, Farwell M. Assignment of the mitochondrial translation elongation factor Ts gene (TSFM) to human chromosome 12 bands q13-->q14 by in situ hybridization and with somatic cell hybrids. Cytogenet Cell Genet. 2000;89:145-6 pubmed
Maksimov V, Arman I, Tarantul V. [Identification of the proteins interacting with neuroprotective peptide humanin in a yeast two-hybrid system]. Genetika. 2006;42:274-7 pubmed
..Screening of human fetal brain cDNA library identified seven proteins with different functions that specifically interacted with humanin. ..
Smeitink J, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, et al
. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006;79:869-77 pubmed
..Sequencing of candidate genes revealed the same homozygous mutation (C997T) in both patients in TSFM, a gene coding for the mitochondrial translation elongation factor EFTs...
Vedrenne V, Galmiche L, Chretien D, de Lonlay P, Munnich A, Rotig A. Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure. J Hepatol. 2012;56:294-7 pubmed publisher
..We sequenced the TSFM gene, encoding the mitochondrial translation factor EFTs and identified a homozygous mutation changing a highly ..
Ahola S, Isohanni P, Euro L, Brilhante V, Palotie A, Pihko H, et al
. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology. 2014;83:743-51 pubmed publisher
..We found novel compound heterozygous mutations, c.944G>A [p.C315Y] and c.856C>T [p.Q286X], in the TSFM gene encoding mitochondrial EFTs. The same p...
Emperador S, Bayona Bafaluy M, Fernández Marmiesse A, Pineda M, Felgueroso B, Lopez Gallardo E, et al
. Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy. Eur J Hum Genet. 2016;25:153-156 pubmed publisher
..as an important functional confirmation, we rescued the normal molecular phenotype by expression of the wild-type TSFM cDNA in patient's fibroblasts...