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Select item 104151531.

Restoration of mitochondrial function through activation of hypomodified tRNAs with pathogenic mutations associated with mitochondrial diseases

Ena Tomoda, Asuteka Nagao, Yuki Shirai, Kana Asano, Takeo Suzuki, Brendan J Battersby, Tsutomu Suzuki

Nucleic Acids Res. 2023 Aug 11; 51(14): 7563–7579. Published online 2023 Mar 17. doi: 10.1093/nar/gkad139

PMCID:: PMC10415153

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Select item 103973172.

Mitochondria and the eye—manifestations of mitochondrial diseases and their management

Benson S. Chen, Joshua P. Harvey, Michael J. Gilhooley, Neringa Jurkute, Patrick Yu-Wai-Man

Eye (Lond) 2023 Aug; 37(12): 2416–2425. Published online 2023 Apr 25. doi: 10.1038/s41433-023-02523-x

PMCID:: PMC10397317

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Select item 103414153.

Drug Drop Test: How to Quickly Identify Potential Therapeutic Compounds for Mitochondrial Diseases Using Yeast Saccharomyces cerevisiae

Martina Magistrati, Alexandru Ionut Gilea, Maria Carla Gerra, Enrico Baruffini, Cristina Dallabona

Int J Mol Sci. 2023 Jul; 24(13): 10696. Published online 2023 Jun 27. doi: 10.3390/ijms241310696

PMCID:: PMC10341415

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Select item 102927514.

Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases

Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner

Front Genet. 2023; 14: 1191159. Published online 2023 Jun 12. doi: 10.3389/fgene.2023.1191159

PMCID:: PMC10292751

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Select item 102188395.

Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes

Emanuele Monda, Michele Lioncino, Martina Caiazza, Vincenzo Simonelli, Claudia Nesti, Marta Rubino, Alessia Perna, Alfredo Mauriello, Alberta Budillon, Vincenzo Pota, Giorgia Bruno, Antonio Varone, Vincenzo Nigro, Filippo Maria Santorelli, Giuseppe Pacileo, Maria Giovanna Russo, Giulia Frisso, Simone Sampaolo, Giuseppe Limongelli

Int J Mol Sci. 2023 May; 24(10): 9108. Published online 2023 May 22. doi: 10.3390/ijms24109108

PMCID:: PMC10218839

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Select item 102178486.

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method

Ferdinando Barretta, Fabiana Uomo, Filomena Caldora, Rossella Mocerino, Daniela Adamo, Francesco Testa, Francesca Simonelli, Olga Scudiero, Nadia Tinto, Giulia Frisso, Cristina Mazzaccara

Genes (Basel) 2023 May; 14(5): 1087. Published online 2023 May 15. doi: 10.3390/genes14051087

PMCID:: PMC10217848

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Select item 101441887.

Why Don’t More Mitochondrial Diseases Exhibit Cardiomyopathy?

Nina Singh, Mindong Ren, Colin K. L. Phoon

J Cardiovasc Dev Dis. 2023 Apr; 10(4): 154. Published online 2023 Apr 1. doi: 10.3390/jcdd10040154

PMCID:: PMC10144188

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Select item 100312558.

Mitochondrial transplantation as a promising therapy for mitochondrial diseases

Tian-guang Zhang, Chao-yu Miao

Acta Pharm Sin B. 2023 Mar; 13(3): 1028–1035. Published online 2022 Oct 11. doi: 10.1016/j.apsb.2022.10.008

PMCID:: PMC10031255

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Select item 100150289.

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis

Teng-Hui Wu, Jing Peng, Li Yang, Yan-Hui Chen, Xiu-Lan Lu, Jiao-Tian Huang, Jie-Yu You, Wen-Xian Ou-Yang, Yue-Yu Sun, Yi-Nan Xue, Xiao Mao, Hui-Ming Yan, Rong-Na Ren, Jing Xie, Zhi-Heng Chen, Victor-Wei Zhang, Gui-Zhen Lyu, Fang He

Sci Rep. 2023; 13: 4193. Published online 2023 Mar 14. doi: 10.1038/s41598-023-31134-5

PMCID:: PMC10015028

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Select item 997940110.

Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape

Tsz-sum Wong, Kiran M. Belaramani, Chun-kong Chan, Wing-ki Chan, Wai-lun Larry Chan, Shek-kwan Chang, Sing-ngai Cheung, Ka-yin Cheung, Yuk-fai Cheung, Shuk-ching Josephine Chong, Chi-kwan Jasmine Chow, Hon-yin Brian Chung, Sin-ying Florence Fan, Wai-ming Joshua Fok, Ka-wing Fong, Tsui-hang Sharon Fung, Kwok-fai Hui, Ting-hin Hui, Joannie Hui, Chun-hung Ko, Min-chung Kwan, Mei-kwan Anne Kwok, Sung-shing Jeffrey Kwok, Moon-sing Lai, Yau-on Lam, Ching-wan Lam, Ming-chung Lau, Chun-yiu Eric Law, Wing-cheong Lee, Han-chih Hencher Lee, Chin-nam Lee, Kin-hang Leung, Kit-yan Leung, Siu-hung Li, Tsz-ki Jacky Ling, Kam-tim Timothy Liu, Fai-man Lo, Hiu-tung Lui, Ching-on Luk, Ho-ming Luk, Che-kwan Ma, Karen Ma, Kam-hung Ma, Yuen-ni Mew, Alex Mo, Sui-fun Ng, Wing-kit Grace Poon, Richard Rodenburg, Bun Sheng, Jan Smeitink, Cheuk-ling Charing Szeto, Shuk-mui Tai, Choi-ting Alan Tse, Li-yan Lilian Tsung, Ho-ming June Wong, Wing-yin Winnie Wong, Kwok-kui Wong, Suet-na Sheila Wong, Chun-nei Virginia Wong, Wai-shan Sammy Wong, Chi-kin Felix Wong, Shun-ping Wu, Hiu-fung Jerome Wu, Man-mut Yau, Kin-cheong Eric Yau, Wai-lan Yeung, Hon-ming Jonas Yeung, Kin-keung Edwin Yip, Pui-hong Terence Young, Gao Yuan, Yuet-ping Liz Yuen, Chi-lap Yuen, Cheuk-wing Fung

Orphanet J Rare Dis. 2023; 18: 43. Published online 2023 Mar 2. doi: 10.1186/s13023-023-02632-6

PMCID:: PMC9979401

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Select item 986580311.

mtUPR Modulation as a Therapeutic Target for Primary and Secondary Mitochondrial Diseases

Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Mónica Álvarez-Córdoba, Manuel Munuera-Cabeza, Marta Talaverón-Rey, Suleva Povea-Cabello, Alejandra Suárez-Carrillo, Ana Romero-González, Juan Miguel Suárez-Rivero, Jose Manuel Romero-Domínguez, Jose Antonio Sánchez-Alcázar

Int J Mol Sci. 2023 Jan; 24(2): 1482. Published online 2023 Jan 12. doi: 10.3390/ijms24021482

PMCID:: PMC9865803

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Select item 986236812.

Adrenal Dysfunction in Mitochondrial Diseases

Madeleine Corkery-Hayward, Louise A. Metherell

Int J Mol Sci. 2023 Jan; 24(2): 1126. Published online 2023 Jan 6. doi: 10.3390/ijms24021126

PMCID:: PMC9862368

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Select item 983715013.

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Gabriel Sturm, Kalpita R. Karan, Anna S. Monzel, Balaji Santhanam, Tanja Taivassalo, Céline Bris, Sarah A. Ware, Marissa Cross, Atif Towheed, Albert Higgins-Chen, Meagan J. McManus, Andres Cardenas, Jue Lin, Elissa S. Epel, Shamima Rahman, John Vissing, Bruno Grassi, Morgan Levine, Steve Horvath, Ronald G. Haller, Guy Lenaers, Douglas C. Wallace, Marie-Pierre St-Onge, Saeed Tavazoie, Vincent Procaccio, Brett A. Kaufman, Erin L. Seifert, Michio Hirano, Martin Picard

Commun Biol. 2023; 6: 22. Published online 2023 Jan 12. doi: 10.1038/s42003-022-04303-x

PMCID:: PMC9837150

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Select item 981818614.

Mitochondrial Unfolded Protein Response and Integrated Stress Response as Promising Therapeutic Targets for Mitochondrial Diseases

Hedong Lu, Xiaolei Wang, Min Li, Dongmei Ji, Dan Liang, Chunmei Liang, Yajing Liu, Zhiguo Zhang, Yunxia Cao, Weiwei Zou

Cells. 2023 Jan; 12(1): 20. Published online 2022 Dec 21. doi: 10.3390/cells12010020

PMCID:: PMC9818186

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Select item 980224715.

An explanation of how mutant and wild-type mitochondria might stably co-exist in inherited mitochondrial diseases

Axel Kowald, Felix P Kemeth, Tom B L Kirkwood

PNAS Nexus. 2022 Sep; 1(4): pgac192. Published online 2022 Sep 16. doi: 10.1093/pnasnexus/pgac192

PMCID:: PMC9802247

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Select item 979444716.

Estimation of the Number of Patients With Mitochondrial Diseases: A Descriptive Study Using a Nationwide Database in Japan

Koki Ibayashi, Yoshihisa Fujino, Masakazu Mimaki, Kenji Fujimoto, Shinya Matsuda, Yu-ichi Goto

J Epidemiol. 2023; 33(2): 68–75. Prepublished online 2021 Apr 28. Published online 2023 Feb 5. doi: 10.2188/jea.JE20200577

PMCID:: PMC9794447

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Select item 972438417.

Current advances in gene therapy of mitochondrial diseases

Vladislav O. Soldatov, Marina V. Kubekina, Marina Yu. Skorkina, Andrei E. Belykh, Tatiana V. Egorova, Mikhail V. Korokin, Mikhail V. Pokrovskiy, Alexey V. Deykin, Plamena R. Angelova

J Transl Med. 2022; 20: 562. Published online 2022 Dec 5. doi: 10.1186/s12967-022-03685-0