210 related articles for article (PubMed ID: 21761307)
1. 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]
2. Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion.
Giordano C; Sebastiani M; De Giorgio R; Travaglini C; Tancredi A; Valentino ML; Bellan M; Cossarizza A; Hirano M; d'Amati G; Carelli V
Am J Pathol; 2008 Oct; 173(4):1120-8. PubMed ID: 18787099
[TBL] [Abstract][Full Text] [Related]
3. Mitochondrial neurogastrointestinal encephalomyopathy: evidence of mitochondrial DNA depletion in the small intestine.
Giordano C; Sebastiani M; Plazzi G; Travaglini C; Sale P; Pinti M; Tancredi A; Liguori R; Montagna P; Bellan M; Valentino ML; Cossarizza A; Hirano M; d'Amati G; Carelli V
Gastroenterology; 2006 Mar; 130(3):893-901. PubMed ID: 16530527
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
Nishino I; Spinazzola A; Papadimitriou A; Hammans S; Steiner I; Hahn CD; Connolly AM; Verloes A; Guimarães J; Maillard I; Hamano H; Donati MA; Semrad CE; Russell JA; Andreu AL; Hadjigeorgiou GM; Vu TH; Tadesse S; Nygaard TG; Nonaka I; Hirano I; Bonilla E; Rowland LP; DiMauro S; Hirano M
Ann Neurol; 2000 Jun; 47(6):792-800. PubMed ID: 10852545
[TBL] [Abstract][Full Text] [Related]
6. ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy.
Nishigaki Y; Marti R; Hirano M
Hum Mol Genet; 2004 Jan; 13(1):91-101. PubMed ID: 14613972
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. Thymidine phosphorylase mutations cause instability of mitochondrial DNA.
Hirano M; Lagier-Tourenne C; Valentino ML; Martí R; Nishigaki Y
Gene; 2005 Jul; 354():152-6. PubMed ID: 15975738
[TBL] [Abstract][Full Text] [Related]
10. Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A; Lacroix C; Plante-Bordeneuve V; Lombès A; Conti M; Reimund JM; Auxenfants E; Crenn P; Laforêt P; Joannard A; Seguy D; Pillant H; Joly P; Haut S; Messing B; Said G; Legrand A; Guiochon-Mantel A
Mol Genet Metab; 2005 Apr; 84(4):326-31. PubMed ID: 15781193
[TBL] [Abstract][Full Text] [Related]
11. A novel ECGF1 mutation in a Thai patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Kintarak J; Liewluck T; Sangruchi T; Hirano M; Kulkantrakorn K; Muengtaweepongsa S
Clin Neurol Neurosurg; 2007 Sep; 109(7):613-6. PubMed ID: 17544574
[TBL] [Abstract][Full Text] [Related]
12. Anatomical Laser Microdissection of the Ileum Reveals mtDNA Depletion Recovery in A Mitochondrial Neuro-Gastrointestinal Encephalomyopathy (MNGIE) Patient Receiving Liver Transplant.
Boschetti E; Caporali L; D'Angelo R; Malagelada C; Accarino A; Dotti MT; Costa R; Cenacchi G; Pironi L; Rinaldi R; Stanghellini V; Ratti S; Manzoli L; Carelli V; De Giorgio R
Int J Mol Sci; 2022 Aug; 23(15):. PubMed ID: 35955927
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.
Szigeti K; Wong LJ; Perng CL; Saifi GM; Eldin K; Adesina AM; Cass DL; Hirano M; Lupski JR; Scaglia F
J Med Genet; 2004 Feb; 41(2):125-9. PubMed ID: 14757860
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. [Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)].
Honzík T; Tesarová M; Hansíková H; Krijt J; Benes P; Zámecník J; Wenchich L; Zeman J
Cas Lek Cesk; 2006; 145(8):665-70. PubMed ID: 16995425
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis of mitochondrial neurogastrointestinal encephalopathy disease in gastrointestinal biopsies.
Perez-Atayde AR
Hum Pathol; 2013 Jul; 44(7):1440-6. PubMed ID: 23453626
[TBL] [Abstract][Full Text] [Related]
20. MNGIE: from nuclear DNA to mitochondrial DNA.
Nishino I; Spinazzola A; Hirano M
Neuromuscul Disord; 2001 Jan; 11(1):7-10. PubMed ID: 11166160
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]