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Select item 101229091.

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

Abstract Article PDF–11M

Select item 95281262.

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

Abstract Article PDF–887K

Select item 87018003.

Saccharomyces cerevisiae as a Tool for Studying Mutations in Nuclear Genes Involved in Diseases Caused by Mitochondrial DNA Instability

Alexandru Ionut Gilea, Camilla Ceccatelli Berti, Martina Magistrati, Giulia di Punzio, Paola Goffrini, Enrico Baruffini, Cristina Dallabona

Genes (Basel) 2021 Dec; 12(12): 1866. Published online 2021 Nov 24. doi: 10.3390/genes12121866

PMCID:: PMC8701800

Abstract Article PDF–510K

Select item 86219324.

A Yeast-Based Repurposing Approach for the Treatment of Mitochondrial DNA Depletion Syndromes Led to the Identification of Molecules Able to Modulate the dNTP Pool

Giulia di Punzio, Micol Gilberti, Enrico Baruffini, Tiziana Lodi, Claudia Donnini, Cristina Dallabona

Int J Mol Sci. 2021 Nov; 22(22): 12223. Published online 2021 Nov 12. doi: 10.3390/ijms222212223

PMCID:: PMC8621932

Abstract Article PDF–3.7M

Select item 76479315.

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

Abstract Article PDF–506K

Select item 67127976.

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

Abstract Article PDF–1.3M

Select item 63687927.

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

Abstract Article PDF–1.5M

Select item 62890598.

A Screen Using iPSC-Derived Hepatocytes Reveals NAD⁺ as a Potential Treatment for mtDNA Depletion Syndrome

Ran Jing, James L. Corbett, Jun Cai, Gyda C. Beeson, Craig C. Beeson, Sherine S. Chan, David P. Dimmock, Lynn Lazcares, Aron M. Geurts, John J. Lemasters, Stephen A. Duncan

Cell Rep. Author manuscript; available in PMC 2018 Dec 11.

Published in final edited form as: Cell Rep. 2018 Nov 6; 25(6): 1469–1484.e5. doi: 10.1016/j.celrep.2018.10.036

PMCID:: PMC6289059

Abstract Article PDF–1.4M

Select item 62813519.

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

Abstract Article PDF–464K

Select item 616697910.

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

Abstract Article PDF–7.6M

Select item 561234611.

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

Abstract Article PDF–237K

Select item 554056512.

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

Abstract Article PDF–674K

Select item 511375413.

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

Abstract Article PDF–226K

Select item 504581614.

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

Abstract Article PDF–2.1M

Select item 460468215.

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

Abstract Article PDF–803K

Select item 457869216.

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

Abstract Article PDF–186K

Select item 432672317.

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

Abstract Article PDF–532K

Select item 392527618.

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

Abstract Article PDF–289K

Select item 389398719.

Infantile peripheral neuropathy, deafness, and proximal tubulopathy associated with a novel mutation of the RRM2B gene

Vesna Stojanović, Johannes A. Mayr, Wolfgang Sperl, Nenad Barišić, Aleksandra Doronjski, Gordana Milak

Croat Med J. 2013 Dec; 54(6): 579–584. doi: 10.3325/cmj.2013.54.579

PMCID:: PMC3893987

Abstract Article PDF–375K

Select item 389182520.

MITOCHONDRIAL DNA DEPLETION SYNDROME DUE TO MUTATIONS IN THE RRM2B GENE

Belén Bornstein, Estela Area, Kevin M. Flanigan, Jaya Ganesh, Parul Jayakar, Kathryn J. Swoboda, Jorida Coku, Ali Naini, Sara Shanske, Kurenai Tanji, Michio Hirano, Salvatore DiMauro

Neuromuscul Disord. Author manuscript; available in PMC 2014 Jan 14.

Published in final edited form as: Neuromuscul Disord. 2008 Jun; 18(6): 453–459. Published online 2008 May 27. doi: 10.1016/j.nmd.2008.04.006

PMCID:: PMC3891825

Abstract Article PDF–4.2M

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