These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
239 related articles for article (PubMed ID: 24362886)
1. Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Cámara Y; González-Vioque E; Scarpelli M; Torres-Torronteras J; Caballero A; Hirano M; Martí R Hum Mol Genet; 2014 May; 23(9):2459-67. PubMed ID: 24362886 [TBL] [Abstract][Full Text] [Related]
2. Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). González-Vioque E; Torres-Torronteras J; Andreu AL; Martí R PLoS Genet; 2011 Mar; 7(3):e1002035. PubMed ID: 21483760 [TBL] [Abstract][Full Text] [Related]
3. Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE. Du J; Liu F; Liu X; Zhao D; Wang D; Sun H; Yan C; Zhao Y J Transl Med; 2024 May; 22(1):449. PubMed ID: 38741129 [TBL] [Abstract][Full Text] [Related]
4. Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE. Torres-Torronteras J; Viscomi C; Cabrera-Pérez R; Cámara Y; Di Meo I; Barquinero J; Auricchio A; Pizzorno G; Hirano M; Zeviani M; Martí R Mol Ther; 2014 May; 22(5):901-7. PubMed ID: 24448160 [TBL] [Abstract][Full Text] [Related]
5. Deoxynucleoside stress exacerbates the phenotype of a mouse model of mitochondrial neurogastrointestinal encephalopathy. Garcia-Diaz B; Garone C; Barca E; Mojahed H; Gutierrez P; Pizzorno G; Tanji K; Arias-Mendoza F; Quinzii CM; Hirano M Brain; 2014 May; 137(Pt 5):1337-49. PubMed ID: 24727567 [TBL] [Abstract][Full Text] [Related]
6. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): case report with a new mutation. Bariş Z; Eminoğlu T; Dalgiç B; Tümer L; Hasanoğlu A Eur J Pediatr; 2010 Nov; 169(11):1375-8. PubMed ID: 20585803 [TBL] [Abstract][Full Text] [Related]
7. Evaluation of gastrointestinal mtDNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Giordano C; d'Amati G Methods Mol Biol; 2011; 755():223-32. PubMed ID: 21761307 [TBL] [Abstract][Full Text] [Related]
8. Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy. Boschetti E; D'Angelo R; Tardio ML; Costa R; Giordano C; Accarino A; Malagelada C; Clavenzani P; Tugnoli V; Caio G; Righi V; Garone C; D'Errico A; Cenacchi G; Dotti MT; Stanghellini V; Sternini C; Pironi L; Rinaldi R; Carelli V; De Giorgio R Am J Physiol Gastrointest Liver Physiol; 2021 May; 320(5):G768-G779. PubMed ID: 33655764 [TBL] [Abstract][Full Text] [Related]
9. POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotype. Finsterer J Clin Neurol Neurosurg; 2024 Jan; 236():108069. PubMed ID: 38070461 [No Abstract] [Full Text] [Related]
10. Response to: POLG1 variants can at most cause MNGIE-like but not classic MNGIE phenotypes. Altuntaş C; Uzunhan TA; Ertürk B; Petmezci MT; Çakar NE; Noyan B; Dokucu Aİ; Önal H Clin Neurol Neurosurg; 2024 Jan; 236():107893. PubMed ID: 37455189 [No Abstract] [Full Text] [Related]
11. Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach. Halter J; Schüpbach W; Casali C; Elhasid R; Fay K; Hammans S; Illa I; Kappeler L; Krähenbühl S; Lehmann T; Mandel H; Marti R; Mattle H; Orchard K; Savage D; Sue CM; Valcarcel D; Gratwohl A; Hirano M Bone Marrow Transplant; 2011 Mar; 46(3):330-337. PubMed ID: 20436523 [TBL] [Abstract][Full Text] [Related]
12. Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. Torres-Torronteras J; Cabrera-Pérez R; Barba I; Costa C; de Luna N; Andreu AL; Barquinero J; Hirano M; Cámara Y; Martí R Hum Gene Ther; 2016 Sep; 27(9):656-67. PubMed ID: 27004974 [TBL] [Abstract][Full Text] [Related]
13. Feeding the deoxyribonucleoside salvage pathway to rescue mitochondrial DNA. Cámara Y; González-Vioque E; Scarpelli M; Torres-Torronteras J; Martí R Drug Discov Today; 2013 Oct; 18(19-20):950-7. PubMed ID: 23817075 [TBL] [Abstract][Full Text] [Related]
14. Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion. Varma H; Faust PL; Iglesias AD; Lagana SM; Wou K; Hirano M; DiMauro S; Mansukani MM; Hoff KE; Nagy PL; Copeland WC; Naini AB Eur J Med Genet; 2016 Oct; 59(10):540-5. PubMed ID: 27592148 [TBL] [Abstract][Full Text] [Related]
18. Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion. Felhi R; Sfaihi L; Charif M; Desquiret-Dumas V; Bris C; Goudenège D; Ammar-Keskes L; Hachicha M; Bonneau D; Procaccio V; Reynier P; Amati-Bonneau P; Lenaers G; Fakhfakh F Clin Chim Acta; 2019 Jan; 488():104-110. PubMed ID: 30395865 [TBL] [Abstract][Full Text] [Related]
19. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a disease of two genomes. Hirano M; Nishigaki Y; Martí R Neurologist; 2004 Jan; 10(1):8-17. PubMed ID: 14720311 [TBL] [Abstract][Full Text] [Related]
20. Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. Vondráčková A; Veselá K; Kratochvílová H; Kučerová Vidrová V; Vinšová K; Stránecký V; Honzík T; Hansíková H; Zeman J; Tesařová M Eur J Hum Genet; 2014 Mar; 22(3):431-4. PubMed ID: 23838601 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]