130 related articles for article (PubMed ID: 38635773)
1. Mitochondrial tRNA pseudouridylation governs erythropoiesis.
Wang B; Shi D; Yang S; Lian Y; Li H; Cao M; He Y; Zhang L; Qiu C; Liu T; Wen W; Ma Y; Shi L; Cheng T; Shi L; Yuan W; Chu Y; Shi J
Blood; 2024 Apr; ():. PubMed ID: 38635773
[TBL] [Abstract][Full Text] [Related]
2. Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation.
Shi D; Wang B; Li H; Lian Y; Ma Q; Liu T; Cao M; Ma Y; Shi L; Yuan W; Shi J; Chu Y
iScience; 2024 Mar; 27(3):109265. PubMed ID: 38450158
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.
Patton JR; Bykhovskaya Y; Mengesha E; Bertolotto C; Fischel-Ghodsian N
J Biol Chem; 2005 May; 280(20):19823-8. PubMed ID: 15772074
[TBL] [Abstract][Full Text] [Related]
4. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E; Berardinelli A; Valente L; Tiranti V; Zeviani M
J Med Genet; 2007 Mar; 44(3):173-80. PubMed ID: 17056637
[TBL] [Abstract][Full Text] [Related]
5. A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Shahni R; Wedatilake Y; Cleary MA; Lindley KJ; Sibson KR; Rahman S
Am J Med Genet A; 2013 Sep; 161A(9):2334-8. PubMed ID: 23918765
[TBL] [Abstract][Full Text] [Related]
6. A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.
Oncul U; Unal-Ince E; Kuloglu Z; Teber-Tiras S; Kaygusuz G; Eminoglu FT
J Pediatr Hematol Oncol; 2021 May; 43(4):e592-e595. PubMed ID: 32287105
[TBL] [Abstract][Full Text] [Related]
7. Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
Fernandez-Vizarra E; Berardinelli A; Valente L; Tiranti V; Zeviani M
BMJ Case Rep; 2009; 2009():. PubMed ID: 21686963
[TBL] [Abstract][Full Text] [Related]
8. Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Riley LG; Cooper S; Hickey P; Rudinger-Thirion J; McKenzie M; Compton A; Lim SC; Thorburn D; Ryan MT; Giegé R; Bahlo M; Christodoulou J
Am J Hum Genet; 2010 Jul; 87(1):52-9. PubMed ID: 20598274
[TBL] [Abstract][Full Text] [Related]
9. Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).
Bykhovskaya Y; Mengesha E; Fischel-Ghodsian N
Mol Genet Metab; 2007 Jun; 91(2):148-56. PubMed ID: 17374500
[TBL] [Abstract][Full Text] [Related]
10. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
Bykhovskaya Y; Casas K; Mengesha E; Inbal A; Fischel-Ghodsian N
Am J Hum Genet; 2004 Jun; 74(6):1303-8. PubMed ID: 15108122
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.
Burrage LC; Tang S; Wang J; Donti TR; Walkiewicz M; Luchak JM; Chen LC; Schmitt ES; Niu Z; Erana R; Hunter JV; Graham BH; Wong LJ; Scaglia F
Mol Genet Metab; 2014 Nov; 113(3):207-12. PubMed ID: 25037980
[TBL] [Abstract][Full Text] [Related]
12. Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
Mangum JE; Hardee JP; Fix DK; Puppa MJ; Elkes J; Altomare D; Bykhovskaya Y; Campagna DR; Schmidt PJ; Sendamarai AK; Lidov HG; Barlow SC; Fischel-Ghodsian N; Fleming MD; Carson JA; Patton JR
Sci Rep; 2016 May; 6():26202. PubMed ID: 27197761
[TBL] [Abstract][Full Text] [Related]
13. Research progress of RNA pseudouridine modification in nervous system.
Chen H; Zhao S
Int J Neurosci; 2024 Feb; ():1-11. PubMed ID: 38407188
[TBL] [Abstract][Full Text] [Related]
14. The phenotypic spectrum of germline
Riley LG; Heeney MM; Rudinger-Thirion J; Frugier M; Campagna DR; Zhou R; Hale GA; Hilliard LM; Kaplan JA; Kwiatkowski JL; Sieff CA; Steensma DP; Rennings AJ; Simons A; Schaap N; Roodenburg RJ; Kleefstra T; Arenillas L; Fita-Torró J; Ahmed R; Abboud M; Bechara E; Farah R; Tamminga RYJ; Bottomley SS; Sanchez M; Huls G; Swinkels DW; Christodoulou J; Fleming MD
Haematologica; 2018 Dec; 103(12):2008-2015. PubMed ID: 30026338
[No Abstract] [Full Text] [Related]
15. Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M; Donà M; Valentino ML; Valentino L; Semplicini C; Maresca A; Cassina M; Torraco A; Galletta E; Manfioli V; Sorarù G; Carelli V; Stramare R; Bertini E; Carrozzo R; Salviati L; Pegoraro E
Neurogenetics; 2016 Jan; 17(1):65-70. PubMed ID: 26556812
[TBL] [Abstract][Full Text] [Related]
16. Sideroblastic anemia associated with multisystem mitochondrial disorders.
Tesarova M; Vondrackova A; Stufkova H; Veprekova L; Stranecky V; Berankova K; Hansikova H; Magner M; Galoova N; Honzik T; Vodickova E; Stary J; Zeman J
Pediatr Blood Cancer; 2019 Apr; 66(4):e27591. PubMed ID: 30588737
[TBL] [Abstract][Full Text] [Related]
17. Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Riley LG; Menezes MJ; Rudinger-Thirion J; Duff R; de Lonlay P; Rotig A; Tchan MC; Davis M; Cooper ST; Christodoulou J
Orphanet J Rare Dis; 2013 Dec; 8():193. PubMed ID: 24344687
[TBL] [Abstract][Full Text] [Related]
18. Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.
Woods J; Cederbaum S
Mol Genet Metab Rep; 2019 Dec; 21():100517. PubMed ID: 31641589
[TBL] [Abstract][Full Text] [Related]
19. Pseudouridine synthase 1 promotes hepatocellular carcinoma through mRNA pseudouridylation to enhance the translation of oncogenic mRNAs.
Hu YX; Diao LT; Hou YR; Lv G; Tao S; Xu WY; Xie SJ; Ren YH; Xiao ZD
Hepatology; 2023 Nov; ():. PubMed ID: 38015993
[TBL] [Abstract][Full Text] [Related]
20. A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
Sasarman F; Nishimura T; Thiffault I; Shoubridge EA
Hum Mutat; 2012 Aug; 33(8):1201-6. PubMed ID: 22504945
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]