| Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP). | Pathological mutations promote proteolysis of mitochondrial tRNA-specific 2-thiouridylase 1 (MTU1) via mitochondrial caseinolytic peptidase (CLPP).
Ahmad RNR, Zhang LT, Morita R, Tani H, Wu Y, Chujo T, Ogawa A, Harada R, Shigeta Y, Tomizawa K, Wei FY., Free PMC Article | 02/15/2024 |
| Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. | 06/16/2023 |
| Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients. | Genetic correction of TRMU allele restored the mitochondrial dysfunction-induced deficiencies in iPSCs-derived hair cells of hearing-impaired patients.
Chen C, Guan MX. | 09/24/2022 |
| Mtu1 defects are correlated with reduced osteogenic differentiation. | Mtu1 defects are correlated with reduced osteogenic differentiation.
He Q, Zhao Q, Li Q, Pan R, Li X, Chen Y., Free PMC Article | 10/2/2021 |
| TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation. | TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.
Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R., Free PMC Article | 08/14/2021 |
| Heteroplasmic transition of A to G at position 1555 of MT-RNR1 gene was identified in all affected individuals co-existing with nuclear c.28G>T (p.A10S) variant in the TRMU gene, only in some patients with hereditary non-syndromic hearing loss of variable severity. | Whole exome sequencing identifies both nuclear and mitochondrial variations in an Iranian family with non-syndromic hearing loss.
Khatami S, Rokni-Zadeh H, Mohsen-Pour N, Biglari A, Changi-Ashtiani M, Shahrooei M, Shahani T. | 08/17/2019 |
| The A10S mutation caused marked decreases in 2-thiouridine modification of U34 of tRNA(Lys), tRNA(Glu) and tRNA(Gln) However, the A10S mutation mildly increased the aminoacylated efficiency of tRNAs | Biochemical Evidence for a Nuclear Modifier Allele (A10S) in TRMU (Methylaminomethyl-2-thiouridylate-methyltransferase) Related to Mitochondrial tRNA Modification in the Phenotypic Manifestation of Deafness-associated 12S rRNA Mutation.
Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX., Free PMC Article | 07/1/2017 |
| Results show that post-transcriptional expression of GTPBP3, MTO1 and TRMU genes is down-regulated, leading to mt-tRNA hypomodification and contributing to mitochondrial dysfunction in MELAS cybrids. | The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.
Meseguer S, Martínez-Zamora A, García-Arumí E, Andreu AL, Armengod ME. | 08/29/2015 |
| An additional, heterozygous mutation was detected in TRMU/MTU1. Although subject myoblasts and myotubes contained half the normal levels of TRMU, thiolation of mitochondrial tRNAs was normal. | A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. | 12/8/2012 |
| MTU1 is not required for mitochondrial translation. | The 2-thiouridylase function of the human MTU1 (TRMU) enzyme is dispensable for mitochondrial translation.
Sasarman F, Antonicka H, Horvath R, Shoubridge EA. | 02/25/2012 |
| There is a window of time whereby patients with TRMU mutations are at increased risk of developing liver failure. | Acute infantile liver failure due to mutations in the TRMU gene.
Zeharia A, Shaag A, Pappo O, Mager-Heckel AM, Saada A, Beinat M, Karicheva O, Mandel H, Ofek N, Segel R, Marom D, Rötig A, Tarassov I, Elpeleg O., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
de Moraes VC, Alexandrino F, Andrade PB, Câmara MF, Sartorato EL. | 04/22/2009 |
| Meta-analysis of gene-disease association. (HuGE Navigator) | Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.
Reiling E, van Vliet-Ostaptchouk JV, van 't Riet E, van Haeften TW, Arp PA, Hansen T, Kremer D, Groenewoud MJ, van Hove EC, Romijn JA, Smit JW, Nijpels G, Heine RJ, Uitterlinden AG, Pedersen O, Slagboom PE, Maassen JA, Hofker MH, 't Hart LM, Dekker JM., Free PMC Article | 03/25/2009 |
| TRMU G28T single nucleotide polymorphism is present in 1 of the studied families for neurosensory nonsyndromic deafness | Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
Otaegui D, Irizar H, Goicoechea M, Pérez-Tur J, Belar M, López de Munain A. | 01/21/2010 |
| MTO2 may act as a modifier gene, modulating the phenotypic expression of the deafness-associated A1491G or C1409T mutation in mitochondrial 12 S rRNA | Mutations in MTO2 related to tRNA modification impair mitochondrial gene expression and protein synthesis in the presence of a paromomycin resistance mutation in mitochondrial 15 S rRNA.
Yan Q, Li X, Faye G, Guan MX., Free PMC Article | 01/21/2010 |
| identification and characterization of a tRNA-modifying enzyme MTU1 (mitochondrial tRNA-specific 2-thiouridylase 1) that is responsible for the 2-thiolation of the wobble position in human and yeast mt tRNAs | Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases.
Umeda N, Suzuki T, Yukawa M, Ohya Y, Shindo H, Watanabe K, Suzuki T. | 01/21/2010 |
| These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA mutations. | Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX. | 01/21/2010 |
| The mutated TRMU, related to transfer RNA modification, acting as a modifier factor modulates the phenotypic manifestation of deafness-associated 12S rRNA mutations. | Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N., Free PMC Article | 01/21/2010 |
| Identification and characterization of a mouse gene encoding one component of the enzyme complex responsible for the nucleotide modification at wobble position of mitochondrial tRNA anticodons. | Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
Yan Q, Guan MX. | 12/1/2005 |