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Select item 110438271.

Nucleoside supplements as treatments for mitochondrial DNA depletion syndrome

Eszter Dombi, Tony Marinaki, Paolo Spingardi, Val Millar, Nastasia Hadjichristou, Janet Carver, Iain G. Johnston, Carl Fratter, Joanna Poulton

Front Cell Dev Biol. 2024; 12: 1260496. Published online 2024 Apr 2. doi: 10.3389/fcell.2024.1260496

PMCID:: PMC11043827

Abstract Article PDF–3.3M

Select item 107048982.

Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series

Montaha Almudhry, Arushi Gahlot Saini, Mohammed A. Al-Omari, Yashu Sharma, Maryam Nabavi Nouri, C. Anthony Rupar, Chitra Prasad, Andrea C. Yu, Savita Verma Attri, Asuri Narayan Prasad

Front Neurol. 2023; 14: 1265115. Published online 2023 Nov 24. doi: 10.3389/fneur.2023.1265115

PMCID:: PMC10704898

Abstract Article PDF–721K

Select item 106463193.

Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia

Herodes Guzman, Sahr Yazdani, Jennifer L. Harmon, Kimberly A. Chapman, Bernadette Vitola, Louise Pyle, Heather McKnight, Winnie Sigal, Katherine Lord, Diva D. De Leon, Nadia Merchant, Rebecca Ganetzky

Front Endocrinol (Lausanne) 2023; 14: 1268135. Published online 2023 Nov 1. doi: 10.3389/fendo.2023.1268135

PMCID:: PMC10646319

Abstract Article PDF–641K

Select item 106457294.

Impact of N221S missense mutation in human ribonucleotide reductase small subunit b on mitochondrial DNA depletion syndrome

Leila Su, Xin Wang, Jianghai Wang, Frank Luh, Yun Yen

Sci Rep. 2023; 13: 19899. Published online 2023 Nov 14. doi: 10.1038/s41598-023-47284-5

PMCID:: PMC10645729

Abstract Article PDF–1.9M

Select item 105645655.

The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13

Maha Alotaibi, Amal Alqasmi, Faisal Albassam, Turki Alkahtani, Muath Alqahtany, Mohammed Alkhaldi

Glob Med Genet. 2023 Dec; 10(4): 278–281. Published online 2023 Oct 10. doi: 10.1055/s-0043-1775979

PMCID:: PMC10564565

Abstract Article PDF–804K

Select item 102998736.

Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome

Razan Abduljalil, Hadhami Ben Turkia, Aysha Fakhroo, Cristina Skrypnyk

Case Reports Hepatol. 2023; 2023: 4514552. Published online 2023 Jun 20. doi: 10.1155/2023/4514552

PMCID:: PMC10299873

Abstract Article PDF–195K

Select item 98052297.

Respiratory chain dysfunction in perifascicular muscle fibres in patients with dermatomyositis is associated with mitochondrial DNA depletion

Carola Hedberg‐Oldfors, Ulrika Lindgren, Kittichate Visuttijai, Daniel Lööf, Sara Roos, Christer Thomsen, Anders Oldfors

Neuropathol Appl Neurobiol. 2022 Dec; 48(7): e12841. Published online 2022 Aug 6. doi: 10.1111/nan.12841

PMCID:: PMC9805229

Abstract Article PDF–50M

Select item 92182288.

A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome

Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati

Mol Genet Metab Rep. 2022 Sep; 32: 100887. Published online 2022 Jun 18. doi: 10.1016/j.ymgmr.2022.100887

PMCID:: PMC9218228

Abstract Article PDF–1.9M

Select item 88828449.

Mitochondrial DNA Depletion Syndrome and Its Associated Cardiac Disease

Haiying Wang, Yijun Han, Shenwei Li, Yunan Chen, Yafen Chen, Jing Wang, Yuqing Zhang, Yawen Zhang, Jingsuo Wang, Yong Xia, Jinxiang Yuan

Front Cardiovasc Med. 2021; 8: 808115. Published online 2022 Feb 14. doi: 10.3389/fcvm.2021.808115

PMCID:: PMC8882844

Abstract Article PDF–3.4M

Select item 862193210.

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 858951511.

Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion

Justin Kurtz, Joseph Americo Fernandes, Jr, Mahesh Mansukhani, William C. Copeland, Ali B. Naini

Case Rep Genet. 2021; 2021: 9969071. Published online 2021 Nov 5. doi: 10.1155/2021/9969071

PMCID:: PMC8589515

Abstract Article PDF–4.7M

Select item 843666112.

A Mild Phenotype of Mitochondrial DNA Depletion Syndrome Type 13 with a Novel FBXL4 Variant

Ummuhan Oncul, Engin Kose, Fatma Tuba Eminoglu

Mol Syndromol. 2021 Aug; 12(5): 294–299. Published online 2021 Jul 19. doi: 10.1159/000515928

PMCID:: PMC8436661

Abstract Article PDF–546K

Select item 823819613.

Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report

Andrew D. Franklin, Bimal P. Chaudhari, Daniel C. Koboldt, Kerri Z. Machut

Front Genet. 2021; 12: 664278. Published online 2021 Jun 14. doi: 10.3389/fgene.2021.664278

PMCID:: PMC8238196

Abstract Article PDF–1.1M

Select item 819482114.

Mitochondrial DNA Depletion in Granulosa Cell Derived Nuclear Transfer Tissues

Daniela Bebbere, Susanne E. Ulbrich, Katrin Giller, Valeri Zakhartchenko, Horst-Dieter Reichenbach, Myriam Reichenbach, Paul J. Verma, Eckhard Wolf, Sergio Ledda, Stefan Hiendleder

Front Cell Dev Biol. 2021; 9: 664099. Published online 2021 May 14. doi: 10.3389/fcell.2021.664099

PMCID:: PMC8194821

Abstract Article PDF–2.2M

Select item 813205215.

A Combined Model of Human iPSC‐Derived Liver Organoids and Hepatocytes Reveals Ferroptosis in DGUOK Mutant mtDNA Depletion Syndrome

Jingyi Guo, Lifan Duan, Xueying He, Shengbiao Li, Yi Wu, Ge Xiang, Feixiang Bao, Liang Yang, Hongyan Shi, Mi Gao, Lingjun Zheng, Huili Hu, Xingguo Liu

Adv Sci (Weinh) 2021 May; 8(10): 2004680. Published online 2021 Mar 8. doi: 10.1002/advs.202004680

PMCID:: PMC8132052

Abstract Article PDF–7.5M

Select item 807597516.

Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease

V. Boczonadi, M. S. King, A. C. Smith, M. Olahova, B. Bansagi, A. Roos, F. Eyassu, C. Borchers, V. Ramesh, H. Lochmüller, T. Polvikoski, R. G. Whittaker, A. Pyle, H. Griffin, R. W. Taylor, P. F. Chinnery, A. J. Robinson, E. R. S. Kunji, R. Horvath

Genet Med. 2019; 21(9): 2163–2164. Published online 2019 Apr 26. doi: 10.1038/s41436-019-0506-1

Corrects:: Genet Med. 2018 Oct; 20(10): 1224–1235.

PMCID:: PMC8075975

Correction PDF–171K

Select item 769696617.

Health Outcomes at School Age among Children Who Are HIV-Exposed but Uninfected with Detected Mitochondrial DNA Depletion at One Year

Audrey Monnin, Nicolas Nagot, Sabrina Eymard-Duvernay, Nicolas Meda, James K. Tumwine, Thorkild Tylleskär, Philippe Van de Perre, Jean-Pierre Molès

J Clin Med. 2020 Nov; 9(11): 3680. Published online 2020 Nov 16. doi: 10.3390/jcm9113680

PMCID:: PMC7696966

Abstract Article PDF–518K

Select item 758624818.

Targeted impairment of thymidine kinase 2 expression in cells induces mitochondrial DNA depletion and reveals molecular mechanisms of compensation of mitochondrial respiratory activity

Joan Villarroya, Mari-Carmen Lara, Beatriz Dorado, Marta Garrido, Elena García-Arumí, Anna Meseguer, Michio Hirano, Maya R. Vilà

Biochem Biophys Res Commun. Author manuscript; available in PMC 2020 Oct 26.

Published in final edited form as: Biochem Biophys Res Commun. 2011 Apr 8; 407(2): 333–338. Published online 2011 Mar 5. doi: 10.1016/j.bbrc.2011.03.018

PMCID:: PMC7586248

Abstract Article PDF–495K

Select item 754958919.

A novel homozygous variant in MICOS13/QIL1 causes hepato‐encephalopathy with mitochondrial DNA depletion syndrome

Yoshihito Kishita, Masaru Shimura, Masakazu Kohda, Masumi Akita, Atsuko Imai‐Okazaki, Yukiko Yatsuka, Yoko Nakajima, Tetsuya Ito, Akira Ohtake, Kei Murayama, Yasushi Okazaki

Mol Genet Genomic Med. 2020 Oct; 8(10): e1427. Published online 2020 Aug 4. doi: 10.1002/mgg3.1427