PMC Articles for MedGen (Select 433425) - PMC

Select item 33391671.

Neonatal liver failure due to deoxyguanosine kinase deficiency

Susana Nobre, Manuela Grazina, Francisco Silva, Carla Pinto, Isabel Gonçalves, Luísa Diogo

BMJ Case Rep. 2012; 2012: bcr1220115317. Published online 2012 Apr 3. doi: 10.1136/bcr.12.2011.5317

PMCID:: PMC3339167

Select item 30266842.

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert, Maciej Pronicki, Tamara Szymańska-Dębińska, Agnieszka Karkucińska-Więckowska, Joanna Jakóbkiewicz-Banecka, Paweł Kowalski, Dorota Piekutowska-Abramczuk, Magdalena Pajdowska, Piotr Socha, Jolanta Sykut-Cegielska, Grzegorz Węgrzyn

J Appl Genet. 2011; 52(1): 61–66. Published online 2010 Nov 16. doi: 10.1007/s13353-010-0008-y

PMCID:: PMC3026684

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Select item 98054263.

A Drosophila model of the neurological symptoms in Mpv17-related diseases

Atsushi Kodani, Mizuki Yamaguchi, Ririka Itoh, Man Anh Huynh, Hideki Yoshida

Sci Rep. 2022; 12: 22632. Published online 2022 Dec 31. doi: 10.1038/s41598-022-27329-x

PMCID:: PMC9805426

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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

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Select item 82850835.

Altered gene transcription profiles in fibroblasts harboring either TK2 or DGUOK mutations indicate compensatory mechanisms

Joan Villarroya, Carme de Bolós, Anna Meseguer, Michio Hirano, Maya R. Vilà

Exp Cell Res. Author manuscript; available in PMC 2021 Jul 16.

Published in final edited form as: Exp Cell Res. 2009 May 1; 315(8): 1429–1438. Published online 2009 Mar 3. doi: 10.1016/j.yexcr.2009.02.018

PMCID:: PMC8285083

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Select item 81320526.

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

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Select item 75495897.

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

PMCID:: PMC7549589

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Select item 73890758.

线粒体DNA耗竭综合征1例临床特点和DGUOK基因突变分析

邓梅, 林伟霞, 郭丽, 张占会, 宋元宗

Zhongguo Dang Dai Er Ke Za Zhi. 2016 Jun 15; 18(6): 545–550. Chinese. doi: 10.7499/j.issn.1008-8830.2016.06.015

PMCID:: PMC7389075

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Select item 73798099.

Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation

Masaru Shimura, Naomi Kuranobu, Minako Ogawa-Tominaga, Nana Akiyama, Yohei Sugiyama, Tomohiro Ebihara, Takuya Fushimi, Keiko Ichimoto, Ayako Matsunaga, Tomoko Tsuruoka, Yoshihito Kishita, Shuichiro Umetsu, Ayano Inui, Tomoo Fujisawa, Ken Tanikawa, Reiko Ito, Akinari Fukuda, Jun Murakami, Shunsaku Kaji, Mureo Kasahara, Kazuo Shiraki, Akira Ohtake, Yasushi Okazaki, Kei Murayama

Orphanet J Rare Dis. 2020; 15: 169. Published online 2020 Jul 24. doi: 10.1186/s13023-020-01441-5

PMCID:: PMC7379809

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Select item 681964410.

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib

BMC Med Genet. 2019; 20: 167. Published online 2019 Oct 29. doi: 10.1186/s12881-019-0893-9

PMCID:: PMC6819644

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Select item 671279711.

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

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Select item 638131212.

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok ^−/− zebrafish

Benjamin Munro, Rita Horvath, Juliane S Müller

Hum Mol Genet. 2019 Mar 1; 28(5): 796–803. Published online 2018 Nov 14. doi: 10.1093/hmg/ddy389

PMCID:: PMC6381312

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Select item 631152413.

The mitochondrial inner membrane protein MPV17 prevents uracil accumulation in mitochondrial DNA

Judith R. Alonzo, Chantel Venkataraman, Martha S. Field, Patrick J. Stover

J Biol Chem. 2018 Dec 28; 293(52): 20285–20294. Published online 2018 Nov 1. doi: 10.1074/jbc.RA118.004788

PMCID:: PMC6311524

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Select item 616697914.

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

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Select item 389563215.

Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene

Johanna Uusimaa, Julie Evans, Conrad Smith, Anna Butterworth, Kate Craig, Neil Ashley, Chunyan Liao, Janet Carver, Alan Diot, Lorna Macleod, Iain Hargreaves, Abdulrahman Al-Hussaini, Eissa Faqeih, Ali Asery, Mohammed Al Balwi, Wafaa Eyaid, Areej Al-Sunaid, Deirdre Kelly, Indra van Mourik, Sarah Ball, Joanna Jarvis, Arundhati Mulay, Nedim Hadzic, Marianne Samyn, Alastair Baker, Shamima Rahman, Helen Stewart, Andrew AM Morris, Anneke Seller, Carl Fratter, Robert W Taylor, Joanna Poulton

Eur J Hum Genet. 2014 Feb; 22(2): 184–191. Published online 2013 May 29. doi: 10.1038/ejhg.2013.112

PMCID:: PMC3895632

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Select item 350197516.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions

Dario Ronchi, Caterina Garone, Andreina Bordoni, Purificacion Gutierrez Rios, Sarah E. Calvo, Michela Ripolone, Michela Ranieri, Mafalda Rizzuti, Luisa Villa, Francesca Magri, Stefania Corti, Nereo Bresolin, Vamsi K. Mootha, Maurizio Moggio, Salvatore DiMauro, Giacomo P. Comi, Monica Sciacco

Brain. 2012 Nov; 135(11): 3404–3415. Published online 2012 Oct 4. doi: 10.1093/brain/aws258

PMCID:: PMC3501975

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Select item 340989217.

Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome Due to Mutation in MPV17 Gene

Abdulaziz AlSaman, Hoda Tomoum, Federica Invernizzi, Massimo Zeviani

Saudi J Gastroenterol. 2012 Jul-Aug; 18(4): 285–289. doi: 10.4103/1319-3767.98439

PMCID:: PMC3409892

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Select item 285962818.

Encephalomyopathies caused by abnormal nuclear-mitochondrial intergenomic cross-talk

C Lamperti, M Zeviani

Acta Myol. 2009 Jul; 28(1): 2–11.

PMCID:: PMC2859628

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Select item 504705819.

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome

Brian Bennett, Daniel Helbling, Hui Meng, Jason Jarzembowski, Aron M. Geurts, Marisa W. Friederich, Johan L. K. Van Hove, Michael W. Lawlor, David P. Dimmock

Free Radic Biol Med. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Free Radic Biol Med. 2016 Mar; 92: 141–151. Published online 2016 Jan 8. doi: 10.1016/j.freeradbiomed.2016.01.001

PMCID:: PMC5047058

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Select item 388058520.

AAV-mediated Liver-specific MPV17 Expression Restores mtDNA Levels and Prevents Diet-induced Liver Failure

Emanuela Bottani, Carla Giordano, Gabriele Civiletto, Ivano Di Meo, Alberto Auricchio, Emilio Ciusani, Silvia Marchet, Costanza Lamperti, Giulia d'Amati, Carlo Viscomi, Massimo Zeviani

Mol Ther. 2014 Jan; 22(1): 10–17. Prepublished online 2013 Jul 3. Published online 2013 Nov 19. doi: 10.1038/mt.2013.230

PMCID:: PMC3880585

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