107 related articles for article (PubMed ID: 32605348)
1. [Mitochondrial liver disease caused by TRMU gene mutation].
Zhang ZH; Ma XP; Guo HM
Zhonghua Er Ke Za Zhi; 2020 Jul; 58(7):602-604. PubMed ID: 32605348
[TBL] [Abstract][Full Text] [Related]
2. A Child With Ichthyosis and Liver Failure.
Indolfi G; Iascone M; Remaschi G; Donati MA; Nesti C; Rubegni A; Pezzoli L; Buccoliero AM; Santorelli FM; Resti M
J Pediatr Gastroenterol Nutr; 2017 Sep; 65(3):e70-e73. PubMed ID: 28562522
[No Abstract] [Full Text] [Related]
3. Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency.
Boczonadi V; Smith PM; Pyle A; Gomez-Duran A; Schara U; Tulinius M; Chinnery PF; Horvath R
Hum Mol Genet; 2013 Nov; 22(22):4602-15. PubMed ID: 23814040
[TBL] [Abstract][Full Text] [Related]
4. microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases.
Meseguer S; Boix O; Navarro-González C; Villarroya M; Boutoual R; Emperador S; García-Arumí E; Montoya J; Armengod ME
Sci Rep; 2017 Jul; 7(1):6209. PubMed ID: 28740091
[TBL] [Abstract][Full Text] [Related]
5. 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
Am J Hum Genet; 2009 Sep; 85(3):401-7. PubMed ID: 19732863
[TBL] [Abstract][Full Text] [Related]
6. Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.
Schara U; von Kleist-Retzow JC; Lainka E; Gerner P; Pyle A; Smith PM; Lochmüller H; Czermin B; Abicht A; Holinski-Feder E; Horvath R
J Inherit Metab Dis; 2011 Feb; 34(1):197-201. PubMed ID: 21153446
[TBL] [Abstract][Full Text] [Related]
7. 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
Audiol Neurootol; 2008; 13(5):320-7. PubMed ID: 18391568
[TBL] [Abstract][Full Text] [Related]
8. 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
Am J Hum Genet; 2006 Aug; 79(2):291-302. PubMed ID: 16826519
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the Caenorhabditis elegans orthologs of human genes required for mitochondrial tRNA modification cause similar electron transport chain defects but different nuclear responses.
Navarro-González C; Moukadiri I; Villarroya M; López-Pascual E; Tuck S; Armengod ME
PLoS Genet; 2017 Jul; 13(7):e1006921. PubMed ID: 28732077
[TBL] [Abstract][Full Text] [Related]
10. 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
Mol Genet Metab; 2021 Feb; 132(2):146-153. PubMed ID: 33485800
[TBL] [Abstract][Full Text] [Related]
11. 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
Biochem Biophys Res Commun; 2006 Apr; 342(4):1130-6. PubMed ID: 16513084
[TBL] [Abstract][Full Text] [Related]
12. Identification and characterization of mouse TRMU gene encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase.
Yan Q; Guan MX
Biochim Biophys Acta; 2004 Jan; 1676(2):119-26. PubMed ID: 14746906
[TBL] [Abstract][Full Text] [Related]
13. Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
Hathazi D; Griffin H; Jennings MJ; Giunta M; Powell C; Pearce SF; Munro B; Wei W; Boczonadi V; Poulton J; Pyle A; Calabrese C; Gomez-Duran A; Schara U; Pitceathly RDS; Hanna MG; Joost K; Cotta A; Paim JF; Navarro MM; Duff J; Mattman A; Chapman K; Servidei S; Della Marina A; Uusimaa J; Roos A; Mootha V; Hirano M; Tulinius M; Giri M; Hoffmann EP; Lochmüller H; DiMauro S; Minczuk M; Chinnery PF; Müller JS; Horvath R
EMBO J; 2020 Dec; 39(23):e105364. PubMed ID: 33128823
[TBL] [Abstract][Full Text] [Related]
14. Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment.
de Moraes VC; Alexandrino F; Andrade PB; Câmara MF; Sartorato EL
Biochem Biophys Res Commun; 2009 Apr; 381(2):210-3. PubMed ID: 19338775
[TBL] [Abstract][Full Text] [Related]
15. Neurodegenerative disease: defective mitochondrial dynamics in the hot seat-a therapeutic target common to many neurological disorders?
Malpass K
Nat Rev Neurol; 2013 Aug; 9(8):417. PubMed ID: 23877644
[No Abstract] [Full Text] [Related]
16. Correspondence on "Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants" by Vogel et al.
Kulseth MA
Genet Med; 2024 Mar; 26(3):101038. PubMed ID: 38226981
[No Abstract] [Full Text] [Related]
17. Analyzing the suppression of respiratory defects in the yeast model of human mitochondrial tRNA diseases.
Montanari A; Zhou YF; D'Orsi MF; Bolotin-Fukuhara M; Frontali L; Francisci S
Gene; 2013 Sep; 527(1):1-9. PubMed ID: 23727608
[TBL] [Abstract][Full Text] [Related]
18. [TRMU MUTATIONS - REVERSIBLE INFANTILE LIVER FAILURE OR MULTISYSTEM DISORDER?].
Gil-Margolis M; Mozer-Glassberg Y; Tobar A; Ashkenazi S; Zeharia A; Marom D
Harefuah; 2018 Jan; 157(1):52-57. PubMed ID: 29374875
[TBL] [Abstract][Full Text] [Related]
19. Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.
Qin Z; Yang Q; Yi S; Huang L; Shen Y; Luo J
Mol Genet Genomic Med; 2020 Dec; 8(12):e1515. PubMed ID: 33205917
[TBL] [Abstract][Full Text] [Related]
20. Perioperative Management of Liver Retransplant in an Adult With a History of TRMU Alteration.
Matus M; Morgan TL; McClain RL; Ladlie BL
Exp Clin Transplant; 2022 Oct; 20(10):965-966. PubMed ID: 35867014
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]