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Items: 1 to 20 of 24

1.
Thymidine Phosphorylase Deficiency or Inhibition Preserves Cardiac Function in Mice With Acute Myocardial Infarction
Lili Du, Hong Yue, Boyd R. Rorabaugh, Oliver Q. Y. Li, Autumn R. DeHart, Gretel Toloza‐Alvarez, Liang Hong, James Denvir, Ellen Thompson, Wei Li
J Am Heart Assoc. 2023 Apr 4; 12(7): e028023. Published online 2023 Mar 28. doi: 10.1161/JAHA.122.028023
PMCID:
PMC10122909
AbstractArticlePDF–11M
2.
Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report 
Zaraq Rashid Khan, Alvina Karam, Mian Ayaz ul Haq, Aleena Aman, Ahmad Sharjeel Karam
J Med Case Rep. 2022; 16: 363. Published online 2022 Oct 3. doi: 10.1186/s13256-022-03582-6
PMCID:
PMC9528126
AbstractArticlePDF–887K
3.
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy
Javier Torres-Torronteras, Raquel Cabrera-Pérez, Ferran Vila-Julià, Carlo Viscomi, Yolanda Cámara, Michio Hirano, Massimo Zeviani, Ramon Martí
Hum Gene Ther. 2018 Jun 1; 29(6): 708–718. Published online 2018 Jun 1. doi: 10.1089/hum.2017.133
PMCID:
PMC7647931
AbstractArticlePDF–506K
4.
Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report
Xianghong Li, Liangshan Li, Yaqi Sun, Fuyan Lv, Guoqing Zhang, Wenmiao Liu, Meiyan Zhang, Hong Jiang, Shiguo Liu
BMC Med Genet. 2019; 20: 146. Published online 2019 Aug 27. doi: 10.1186/s12881-019-0875-y
PMCID:
PMC6712797
AbstractArticlePDF–1.3M
5.
Gastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal
Rana Yadak, Marjolein Breur, Marianna Bugiani
Orphanet J Rare Dis. 2019; 14: 33. Published online 2019 Feb 8. doi: 10.1186/s13023-019-1016-6
PMCID:
PMC6368792
AbstractArticlePDF–1.5M
6.
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome
Yolanda Cámara, Emiliano González-Vioque, Mauro Scarpelli, Javier Torres-Torronteras, Andrea Caballero, Michio Hirano, Ramon Martí
Hum Mol Genet. 2014 May 1; 23(9): 2459–2467. Published online 2013 Dec 20. doi: 10.1093/hmg/ddt641
PMCID:
PMC6281351
AbstractArticlePDF–464K
7.
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex
Micol Gilberti, Enrico Baruffini, Claudia Donnini, Cristina Dallabona
PLoS One. 2018; 13(10): e0205014. Published online 2018 Oct 1. doi: 10.1371/journal.pone.0205014
PMCID:
PMC6166979
AbstractArticlePDF–7.6M
8.
Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation
Malcolm Kevin Baker, Clara Maria Schutte, Neelay Ranchhod, David Brittain, J E van Rensburg
BMJ Case Rep. 2017; 2017: bcr2016218276. Published online 2017 Aug 1. doi: 10.1136/bcr-2016-218276
PMCID:
PMC5612346
AbstractArticlePDF–237K
9.
Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function
Benjamin Röeben, Justus Marquetand, Benjamin Bender, Heiko Billing, Tobias B. Haack, Iciar Sanchez-Albisua, Ludger Schöls, Henk J. Blom, Matthis Synofzik
Orphanet J Rare Dis. 2017; 12: 135. Published online 2017 Aug 1. doi: 10.1186/s13023-017-0687-0
PMCID:
PMC5540565
AbstractArticlePDF–674K
10.
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure
Patrick McKiernan, Sarah Ball, Saikat Santra, Katherine Foster, Carl Fratter, Joanna Poulton, Kate Craig, Robert McFarland, Shamima Rahman, Iain Hargreaves, Girish Gupte, Khalid Sharif, Robert W. Taylor
J Pediatr Gastroenterol Nutr. 2016 Dec; 63(6): 592–597. Published online 2016 Nov 23. doi: 10.1097/MPG.0000000000001345
PMCID:
PMC5113754
AbstractArticlePDF–226K
11.
Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an Infant with Fulminant Hepatic Failure and Mitochondrial DNA Depletion
Hemant Varma, Phyllis L. Faust, Alejandro D. Iglesias, Stephen M. Lagana, Karen Wou, Michio Hirano, Salvatore DiMauro, Mahesh M. Mansukani, Kirsten E. Hoff, Peter L. Nagy, William C. Copeland, Ali B. Naini
Eur J Med Genet. Author manuscript; available in PMC 2017 Oct 1.
Published in final edited form as: Eur J Med Genet. 2016 Oct; 59(10): 540–545. Published online 2016 Aug 31. doi: 10.1016/j.ejmg.2016.08.012
PMCID:
PMC5045816
AbstractArticlePDF–2.1M
12.
Mitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches
Ivano Di Meo, Costanza Lamperti, Valeria Tiranti
EMBO Mol Med. 2015 Oct; 7(10): 1257–1266. Published online 2015 Jul 20. doi: 10.15252/emmm.201505040
PMCID:
PMC4604682
AbstractArticlePDF–803K
13.
Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach
J Halter, WMM Schüpbach, C Casali, R Elhasid, K Fay, S Hammans, I Illa, L Kappeler, S Krähenbühl, T Lehmann, H Mandel, R Marti, H Mattle, K Orchard, D Savage, CM Sue, D Valcarcel, A Gratwohl, M Hirano
Bone Marrow Transplant. Author manuscript; available in PMC 2015 Sep 22.
Published in final edited form as: Bone Marrow Transplant. 2011 Mar; 46(3): 330–337. Published online 2010 May 3. doi: 10.1038/bmt.2010.100
PMCID:
PMC4578692
AbstractArticlePDF–186K
14.
Use of stereotypical mutational motifs to define resolution limits for the ultra-deep resequencing of mitochondrial DNA
Kristian Gardner, Brendan AI Payne, Rita Horvath, Patrick F Chinnery
Eur J Hum Genet. 2015 Mar; 23(3): 413–415. Published online 2014 Jun 4. doi: 10.1038/ejhg.2014.96
PMCID:
PMC4326723
AbstractArticlePDF–532K
15.
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
Alžběta Vondráčková, Kateřina Veselá, Hana Kratochvílová, Vendula Kučerová Vidrová, Kamila Vinšová, Viktor Stránecký, Tomáš Honzík, Hana Hansíková, Jiří Zeman, Markéta Tesařová
Eur J Hum Genet. 2014 Mar; 22(3): 431–434. Published online 2013 Jul 10. doi: 10.1038/ejhg.2013.148
PMCID:
PMC3925276
AbstractArticlePDF–289K
16.
Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome
Jaap A. Bakker, Patrick Schlesser, Hubert J. M. Smeets, Baudouin Francois, Jörgen Bierau
J Inherit Metab Dis. 2010; 33(Suppl 3): 139–143. Published online 2010 Feb 12. doi: 10.1007/s10545-010-9049-y
PMCID:
PMC3757267
AbstractArticlePDF–131K
17.
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy
Caterina Garone, Saba Tadesse, Michio Hirano
Brain. 2011 Nov; 134(11): 3326–3332. Published online 2011 Sep 20. doi: 10.1093/brain/awr245
PMCID:
PMC3212717
AbstractArticlePDF–226K
18.
Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter.
M Hirano, J Garcia-de-Yebenes, A C Jones, I Nishino, S DiMauro, J R Carlo, A N Bender, A F Hahn, L M Salberg, D E Weeks, T G Nygaard
Am J Hum Genet. 1998 Aug; 63(2): 526–533. doi: 10.1086/301979
PMCID:
PMC1377320
SummaryPDF–447K
19.
Familial visceral myopathy associated with a mitochondrial myopathy.
R Lowsky, G Davidson, S Wolman, K N Jeejeebhoy, R A Hegele
Gut. 1993 Feb; 34(2): 279–283. doi: 10.1136/gut.34.2.279
PMCID:
PMC1373985
SummaryPage BrowsePDF–1.5M
20.
Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides
Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, Ramon Martí
EBioMedicine. 2020 Dec; 62: 103133. Published online 2020 Nov 21. doi: 10.1016/j.ebiom.2020.103133
PMCID:
PMC7689515
AbstractArticlePDF–2.8M

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