177 related articles for article (PubMed ID: 34045482)
1. A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome.
Kishita Y; Ishikawa K; Nakada K; Hayashi JI; Fushimi T; Shimura M; Kohda M; Ohtake A; Murayama K; Okazaki Y
Sci Rep; 2021 May; 11(1):11123. PubMed ID: 34045482
[TBL] [Abstract][Full Text] [Related]
2. Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.
Zhang J; Ji Y; Chen J; Xu M; Wang G; Ci X; Lin B; Mo JQ; Zhou X; Guan MX
Invest Ophthalmol Vis Sci; 2021 Jul; 62(9):38. PubMed ID: 34311469
[TBL] [Abstract][Full Text] [Related]
3. A novel mitochondrial m.14430A>G (MT-ND6, p.W82R) variant causes complex I deficiency and mitochondrial Leigh syndrome.
Du M; Wei X; Xu P; Xie A; Zhou X; Yang Y; Li D; Lyu J; Fang H
Clin Chem Lab Med; 2020 Oct; 58(11):1809-1817. PubMed ID: 32432562
[TBL] [Abstract][Full Text] [Related]
4. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Jiang P; Jin X; Peng Y; Wang M; Liu H; Liu X; Zhang Z; Ji Y; Zhang J; Liang M; Zhao F; Sun YH; Zhang M; Zhou X; Chen Y; Mo JQ; Huang T; Qu J; Guan MX
Hum Mol Genet; 2016 Feb; 25(3):584-96. PubMed ID: 26647310
[TBL] [Abstract][Full Text] [Related]
5. Systematic analysis of a mitochondrial disease-causing ND6 mutation in mitochondrial deficiency.
Chen D; Zhao Q; Xiong J; Lou X; Han Q; Wei X; Xie J; Li X; Zhou H; Shen L; Yang Y; Fang H; Lyu J
Mol Genet Genomic Med; 2020 May; 8(5):e1199. PubMed ID: 32162843
[TBL] [Abstract][Full Text] [Related]
6. Identification of a novel m.3955G > A variant in MT-ND1 associated with Leigh syndrome.
Xu M; Kopajtich R; Elstner M; Li H; Liu Z; Wang J; Prokisch H; Fang F
Mitochondrion; 2022 Jan; 62():13-23. PubMed ID: 34656796
[TBL] [Abstract][Full Text] [Related]
7. Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
Danhelovska T; Kolarova H; Zeman J; Hansikova H; Vaneckova M; Lambert L; Kucerova-Vidrova V; Berankova K; Honzik T; Tesarova M
BMC Pediatr; 2020 Jan; 20(1):41. PubMed ID: 31996177
[TBL] [Abstract][Full Text] [Related]
8. Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy.
Ji Y; Zhang J; Yu J; Wang Y; Lu Y; Liang M; Li Q; Jin X; Wei Y; Meng F; Gao Y; Cang X; Tong Y; Liu X; Zhang M; Jiang P; Zhu T; Mo JQ; Huang T; Jiang P; Guan MX
Hum Mol Genet; 2019 May; 28(9):1515-1529. PubMed ID: 30597069
[TBL] [Abstract][Full Text] [Related]
9. Rescue from galactose-induced death of Leigh Syndrome patient cells by pyruvate and NAD
Iannetti EF; Smeitink JAM; Willems PHGM; Beyrath J; Koopman WJH
Cell Death Dis; 2018 Nov; 9(11):1135. PubMed ID: 30429455
[TBL] [Abstract][Full Text] [Related]
10. A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Ngu LH; Nijtmans LG; Distelmaier F; Venselaar H; van Emst-de Vries SE; van den Brand MA; Stoltenborg BJ; Wintjes LT; Willems PH; van den Heuvel LP; Smeitink JA; Rodenburg RJ
Biochim Biophys Acta; 2012 Feb; 1822(2):168-75. PubMed ID: 22036843
[TBL] [Abstract][Full Text] [Related]
11. Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.
Ma YY; Wu TF; Liu YP; Wang Q; Li XY; Zhang Y; Song JQ; Wang YJ; Yang YL
Mitochondrial DNA; 2013 Feb; 24(1):67-73. PubMed ID: 22947169
[TBL] [Abstract][Full Text] [Related]
12. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome.
Xu B; Li X; Du M; Zhou C; Fang H; Lyu J; Yang Y
J Hum Genet; 2017 Feb; 62(2):291-297. PubMed ID: 27761019
[TBL] [Abstract][Full Text] [Related]
13. Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mitochondrial DNA mutations affecting complex I or v subunits.
Bonnet C; Kaltimbacher V; Ellouze S; Augustin S; Bénit P; Forster V; Rustin P; Sahel JA; Corral-Debrinski M
Rejuvenation Res; 2007 Jun; 10(2):127-44. PubMed ID: 17518546
[TBL] [Abstract][Full Text] [Related]
14. Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali L; Iommarini L; La Morgia C; Olivieri A; Achilli A; Maresca A; Valentino ML; Capristo M; Tagliavini F; Del Dotto V; Zanna C; Liguori R; Barboni P; Carbonelli M; Cocetta V; Montopoli M; Martinuzzi A; Cenacchi G; De Michele G; Testa F; Nesti A; Simonelli F; Porcelli AM; Torroni A; Carelli V
PLoS Genet; 2018 Feb; 14(2):e1007210. PubMed ID: 29444077
[TBL] [Abstract][Full Text] [Related]
15. Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.
Miller DK; Menezes MJ; Simons C; Riley LG; Cooper ST; Grimmond SM; Thorburn DR; Christodoulou J; Taft RJ
PLoS One; 2014; 9(8):e104879. PubMed ID: 25118196
[TBL] [Abstract][Full Text] [Related]
16. Juvenile Leigh syndrome, optic atrophy, ataxia, dystonia, and epilepsy due to T14487C mutation in the mtDNA-ND6 gene: a mitochondrial syndrome presenting from birth to adolescence.
Leshinsky-Silver E; Shuvalov R; Inbar S; Cohen S; Lev D; Lerman-Sagie T
J Child Neurol; 2011 Apr; 26(4):476-81. PubMed ID: 21196529
[TBL] [Abstract][Full Text] [Related]
17. The mitochondrial DNA 10197 G > A mutation causes MELAS/Leigh overlap syndrome presenting with acute auditory agnosia.
Leng Y; Liu Y; Fang X; Li Y; Yu L; Yuan Y; Wang Z
Mitochondrial DNA; 2015 Apr; 26(2):208-12. PubMed ID: 24708134
[TBL] [Abstract][Full Text] [Related]
18. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Ugalde C; Triepels RH; Coenen MJ; van den Heuvel LP; Smeets R; Uusimaa J; Briones P; Campistol J; Majamaa K; Smeitink JA; Nijtmans LG
Ann Neurol; 2003 Nov; 54(5):665-9. PubMed ID: 14595656
[TBL] [Abstract][Full Text] [Related]
19. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
Martín MA; Blázquez A; Gutierrez-Solana LG; Fernández-Moreira D; Briones P; Andreu AL; Garesse R; Campos Y; Arenas J
Arch Neurol; 2005 Apr; 62(4):659-61. PubMed ID: 15824269
[TBL] [Abstract][Full Text] [Related]
20. Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
Marin SE; Mesterman R; Robinson B; Rodenburg RJ; Smeitink J; Tarnopolsky MA
Gene; 2013 Mar; 516(1):162-7. PubMed ID: 23266820
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
