188 related articles for article (PubMed ID: 37681412)
1. Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations.
Zhang J; Koolmeister C; Han J; Filograna R; Hanke L; Àdori M; Sheward DJ; Teifel S; Gopalakrishna S; Shao Q; Liu Y; Zhu K; Harris RA; McInerney G; Murrell B; Aoun M; Bäckdahl L; Holmdahl R; Pekalski M; Wedell A; Engvall M; Wredenberg A; Karlsson Hedestam GB; Castro Dopico X; Rorbach J
JCI Insight; 2023 Sep; 8(17):. PubMed ID: 37681412
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.
Sternberg D; Chatzoglou E; Laforêt P; Fayet G; Jardel C; Blondy P; Fardeau M; Amselem S; Eymard B; Lombès A
Brain; 2001 May; 124(Pt 5):984-94. PubMed ID: 11335700
[TBL] [Abstract][Full Text] [Related]
3. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.
Walker MA; Lareau CA; Ludwig LS; Karaa A; Sankaran VG; Regev A; Mootha VK
N Engl J Med; 2020 Oct; 383(16):1556-1563. PubMed ID: 32786181
[TBL] [Abstract][Full Text] [Related]
4. Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease.
Blakely EL; Yarham JW; Alston CL; Craig K; Poulton J; Brierley C; Park SM; Dean A; Xuereb JH; Anderson KN; Compston A; Allen C; Sharif S; Enevoldson P; Wilson M; Hammans SR; Turnbull DM; McFarland R; Taylor RW
Hum Mutat; 2013 Sep; 34(9):1260-8. PubMed ID: 23696415
[TBL] [Abstract][Full Text] [Related]
5. Modeling Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome Using Patient-Derived Induced Neurons Generated by Direct Reprogramming.
Povea-Cabello S; Villanueva-Paz M; Villalón-García I; Talaverón-Rey M; Álvarez-Cordoba M; Suárez-Rivero JM; Montes MÁ; Rodríguez-Moreno A; Andrade-Talavera Y; Armengol JA; Sánchez-Alcázar JA
Cell Reprogram; 2022 Oct; 24(5):294-303. PubMed ID: 35802497
[TBL] [Abstract][Full Text] [Related]
6. Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.
Li W; Zhang W; Li F; Wang C
Int J Clin Exp Pathol; 2015; 8(6):7022-7. PubMed ID: 26261593
[TBL] [Abstract][Full Text] [Related]
7. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
Uusimaa J; Finnilä S; Remes AM; Rantala H; Vainionpää L; Hassinen IE; Majamaa K
Pediatrics; 2004 Aug; 114(2):443-50. PubMed ID: 15286228
[TBL] [Abstract][Full Text] [Related]
8. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
Blok MJ; Spruijt L; de Coo IF; Schoonderwoerd K; Hendrickx A; Smeets HJ
J Med Genet; 2007 Apr; 44(4):e74. PubMed ID: 17400793
[TBL] [Abstract][Full Text] [Related]
9. Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA.
Hancock DK; Schwarz FP; Song F; Wong LJ; Levin BC
Clin Chem; 2002 Dec; 48(12):2155-63. PubMed ID: 12446471
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial tRNA gene mutations in patients having mitochondrial disease with lactic acidosis.
Ueki I; Koga Y; Povalko N; Akita Y; Nishioka J; Yatsuga S; Fukiyama R; Matsuishi T
Mitochondrion; 2006 Feb; 6(1):29-36. PubMed ID: 16337222
[TBL] [Abstract][Full Text] [Related]
11. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes.
Chomyn A; Enriquez JA; Micol V; Fernandez-Silva P; Attardi G
J Biol Chem; 2000 Jun; 275(25):19198-209. PubMed ID: 10858457
[TBL] [Abstract][Full Text] [Related]
12. Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).
Hatakeyama H; Katayama A; Komaki H; Nishino I; Goto Y
Acta Neuropathol Commun; 2015 Aug; 3():52. PubMed ID: 26297375
[TBL] [Abstract][Full Text] [Related]
13. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes.
Li R; Guan MX
Mol Cell Biol; 2010 May; 30(9):2147-54. PubMed ID: 20194621
[TBL] [Abstract][Full Text] [Related]
14. A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome.
Vastagh I; Gál A; Reményi V; Semjén J; Lukács T; Valikovics A; Molnár MJ
Ideggyogy Sz; 2011 Nov; 64(11-12):399-403. PubMed ID: 22611618
[TBL] [Abstract][Full Text] [Related]
15. [Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2].
Delgado-Sánchez R; Zárate-Moysen A; Monsalvo-Reyes A; Herrero MD; Ruiz-Pesini E; López-Pérez M; Montoya J; Montiel-Sosa JF
Rev Neurol; 2007 Jan 1-15; 44(1):18-22. PubMed ID: 17199225
[TBL] [Abstract][Full Text] [Related]
16. Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA.
Matthews PM; Brown RM; Morten K; Marchington D; Poulton J; Brown G
Hum Genet; 1995 Sep; 96(3):261-8. PubMed ID: 7649539
[TBL] [Abstract][Full Text] [Related]
17. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree.
Dubeau F; De Stefano N; Zifkin BG; Arnold DL; Shoubridge EA
Ann Neurol; 2000 Feb; 47(2):179-85. PubMed ID: 10665488
[TBL] [Abstract][Full Text] [Related]
18. T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood.
Walker MA; Li S; Livak KJ; Karaa A; Wu CJ; Mootha VK
J Inherit Metab Dis; 2024 Mar; ():. PubMed ID: 38499449
[TBL] [Abstract][Full Text] [Related]
19. A mitochondrial tRNA(Lys) gene mutation (T8316C) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.
Campos Y; Lorenzo G; Martín MA; Torregrosa A; del Hoyo P; Rubio JC; García A; Arenas J
Neuromuscul Disord; 2000 Oct; 10(7):493-6. PubMed ID: 10996780
[TBL] [Abstract][Full Text] [Related]
20. Metabolic rescue in pluripotent cells from patients with mtDNA disease.
Ma H; Folmes CD; Wu J; Morey R; Mora-Castilla S; Ocampo A; Ma L; Poulton J; Wang X; Ahmed R; Kang E; Lee Y; Hayama T; Li Y; Van Dyken C; Gutierrez NM; Tippner-Hedges R; Koski A; Mitalipov N; Amato P; Wolf DP; Huang T; Terzic A; Laurent LC; Izpisua Belmonte JC; Mitalipov S
Nature; 2015 Aug; 524(7564):234-8. PubMed ID: 26176921
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
