203 related articles for article (PubMed ID: 34638685)
1. Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity.
Bakare AB; Dean J; Chen Q; Thorat V; Huang Y; LaFramboise T; Lesnefsky EJ; Iyer S
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638685
[TBL] [Abstract][Full Text] [Related]
2. Cell-Permeable Succinate Increases Mitochondrial Membrane Potential and Glycolysis in Leigh Syndrome Patient Fibroblasts.
Bakare AB; Rao RR; Iyer S
Cells; 2021 Aug; 10(9):. PubMed ID: 34571904
[TBL] [Abstract][Full Text] [Related]
3. mRNA Reprogramming of T8993G Leigh's Syndrome Fibroblast Cells to Create Induced Pluripotent Stem Cell Models for Mitochondrial Disorders.
Grace HE; Galdun P; Lesnefsky EJ; West FD; Iyer S
Stem Cells Dev; 2019 Jul; 28(13):846-859. PubMed ID: 31017045
[TBL] [Abstract][Full Text] [Related]
4. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome.
Uittenbogaard M; Brantner CA; Fang Z; Wong LC; Gropman A; Chiaramello A
Mol Genet Metab; 2018 May; 124(1):71-81. PubMed ID: 29602698
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
Naess K; Freyer C; Bruhn H; Wibom R; Malm G; Nennesmo I; von Döbeln U; Larsson NG
Biochim Biophys Acta; 2009 May; 1787(5):484-90. PubMed ID: 19103152
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Vazquez-Memije ME; Shanske S; Santorelli FM; Kranz-Eble P; Davidson E; DeVivo DC; DiMauro S
J Inherit Metab Dis; 1996; 19(1):43-50. PubMed ID: 8830176
[TBL] [Abstract][Full Text] [Related]
10. Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells.
D'Aurelio M; Vives-Bauza C; Davidson MM; Manfredi G
Hum Mol Genet; 2010 Jan; 19(2):374-86. PubMed ID: 19875463
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Novel
González-Quintana A; García-Consuegra I; Belanger-Quintana A; Serrano-Lorenzo P; Lucia A; Blázquez A; Docampo J; Ugalde C; Morán M; Arenas J; Martín MA
Genes (Basel); 2020 Jul; 11(8):. PubMed ID: 32722639
[TBL] [Abstract][Full Text] [Related]
13. Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia.
Järviaho T; Hurme-Niiranen A; Soini HK; Niinimäki R; Möttönen M; Savolainen ER; Hinttala R; Harila-Saari A; Uusimaa J
Clin Genet; 2018 Feb; 93(2):275-285. PubMed ID: 28708239
[TBL] [Abstract][Full Text] [Related]
14. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake NJ; Webb BD; Stroud DA; Richman TR; Ruzzenente B; Compton AG; Mountford HS; Pulman J; Zangarelli C; Rio M; Boddaert N; Assouline Z; Sherpa MD; Schadt EE; Houten SM; Byrnes J; McCormick EM; Zolkipli-Cunningham Z; Haude K; Zhang Z; Retterer K; Bai R; Calvo SE; Mootha VK; Christodoulou J; Rötig A; Filipovska A; Cristian I; Falk MJ; Metodiev MD; Thorburn DR
Am J Hum Genet; 2017 Aug; 101(2):239-254. PubMed ID: 28777931
[TBL] [Abstract][Full Text] [Related]
15. Analysis of mitochondrial DNA sequences in childhood encephalomyopathies reveals new disease-associated variants.
Wani AA; Ahanger SH; Bapat SA; Rangrez AY; Hingankar N; Suresh CG; Barnabas S; Patole MS; Shouche YS
PLoS One; 2007 Sep; 2(9):e942. PubMed ID: 17895983
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Inefficient coupling between proton transport and ATP synthesis may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA.
Sgarbi G; Baracca A; Lenaz G; Valentino LM; Carelli V; Solaini G
Biochem J; 2006 May; 395(3):493-500. PubMed ID: 16402916
[TBL] [Abstract][Full Text] [Related]
18. Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
Taylor RW; Morris AA; Hutchinson M; Turnbull DM
Eur J Hum Genet; 2002 Feb; 10(2):141-4. PubMed ID: 11938446
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome.
Na JH; Lee YM
Acta Neurol Scand; 2022 Apr; 145(4):414-422. PubMed ID: 34877647
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]