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Select item 116069281.

Expanded‐Access Use of Elamipretide Improves Quality of Life in Patients With Rare Mitochondrial Disorders Characterized by Ophthalmic Symptoms: A Case Series

Sharique Ansari, Mary Kay Koenig

Clin Case Rep. 2024 Dec; 12(12): e9591. Published online 2024 Nov 29. doi: 10.1002/ccr3.9591

PMCID:: PMC11606928

Abstract Article PDF–1.4M

Select item 113517582.

Pathological Role of High Sugar in Mitochondrial Respiratory Chain Defect-Augmented Mitochondrial Stress

Ebrima D. Cham, Tsung-I Peng, Mei-Jie Jou

Biology (Basel) 2024 Aug; 13(8): 639. Published online 2024 Aug 21. doi: 10.3390/biology13080639

PMCID:: PMC11351758

Abstract Article PDF–8.3M

Select item 111873273.

Yasunari Yamaguchi, Kazuya Okamura, Kazuhiko Yamamuro, Kazuki Okumura, Takashi Komori, Michihiro Toritsuka, Ryohei Takada, Yosuke Nishihata, Daisuke Ikawa, Takahira Yamauchi, Manabu Makinodan, Hiroki Yoshino, Yasuhiko Saito, Hideo Matsuzaki, Toshifumi Kishimoto, Sohei Kimoto

Front Psychiatry. 2024; 15: 1403476. Published online 2024 Jun 6. doi: 10.3389/fpsyt.2024.1403476

PMCID:: PMC11187327

Abstract Article PDF–1.7M

Select item 111000364.

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies

Daniele Sala, Silvia Marchet, Lorenzo Nanetti, Andrea Legati, Caterina Mariotti, Eleonora Lamantea, Daniele Ghezzi, Alessia Catania, Costanza Lamperti

Orphanet J Rare Dis. 2024; 19: 200. Published online 2024 May 16. doi: 10.1186/s13023-024-03212-y

PMCID:: PMC11100036

Abstract Article PDF–1.5M

Select item 108896825.

Variants in Human ATP Synthase Mitochondrial Genes: Biochemical Dysfunctions, Associated Diseases, and Therapies

Valentina Del Dotto, Francesco Musiani, Alessandra Baracca, Giancarlo Solaini

Int J Mol Sci. 2024 Feb; 25(4): 2239. Published online 2024 Feb 13. doi: 10.3390/ijms25042239

PMCID:: PMC10889682

Abstract Article PDF–5.9M

Select item 104166126.

Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes

MF Alexeyev, N Venediktova, V Pastukh, I Shokolenko, G Bonilla, GL Wilson

Gene Ther. Author manuscript; available in PMC 2023 Aug 11.

Published in final edited form as: Gene Ther. 2008 Apr; 15(7): 516–523. Published online 2008 Feb 7. doi: 10.1038/gt.2008.11

PMCID:: PMC10416612

Abstract Article PDF–837K

Select item 101645607.

Single-cell individual full-length mtDNA sequencing by iMiGseq uncovers unexpected heteroplasmy shifts in mtDNA editing

Chongwei Bi, Lin Wang, Yong Fan, Baolei Yuan, Gerardo Ramos-Mandujano, Yingzi Zhang, Samhan Alsolami, Xuan Zhou, Jincheng Wang, Yanjiao Shao, Pradeep Reddy, Pu-Yao Zhang, Yanyi Huang, Yang Yu, Juan Carlos Izpisua Belmonte, Mo Li

Nucleic Acids Res. 2023 May 8; 51(8): e48. Published online 2023 Mar 31. doi: 10.1093/nar/gkad208

PMCID:: PMC10164560

Abstract Article PDF–3.3M

Select item 100775038.

Molecular basis of diseases induced by the mitochondrial DNA mutation m.9032T>C

Emilia Baranowska, Katarzyna Niedzwiecka, Chiranjit Panja, Camille Charles, Alain Dautant, Jean-Paul di Rago, Déborah Tribouillard-Tanvier, Roza Kucharczyk

Hum Mol Genet. 2023 Apr 15; 32(8): 1313–1323. Published online 2022 Nov 26. doi: 10.1093/hmg/ddac292

PMCID:: PMC10077503

Abstract Article PDF–1.3M

Select item 94769489.

The Metabolic Adaptation in Response to Nitrate Is Critical for Actinobacillus pleuropneumoniae Growth and Pathogenicity under the Regulation of NarQ/P

Qiuhong Zhang, Hao Tang, Chaoyue Yan, Weiyao Han, Lu Peng, Jiajia Xu, Xiabing Chen, Paul R. Langford, Weicheng Bei, Qi Huang, Rui Zhou, Lu Li

Infect Immun. 2022 Sep; 90(9): e00239-22. Published online 2022 Aug 8. doi: 10.1128/iai.00239-22

PMCID:: PMC9476948

Abstract Article PDF–3.3M

Select item 932035310.

Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations

Anish Nikhanj, Jesi Bautista, Zaeem A. Siddiqi, Cecile L. Phan, Gavin Y. Oudit

J Cardiovasc Dev Dis. 2022 Jul; 9(7): 221. Published online 2022 Jul 9. doi: 10.3390/jcdd9070221

PMCID:: PMC9320353

Abstract Article PDF–899K

Select item 926259511.

Synthesis of the NarP response regulator of nitrate respiration in Escherichia coli is regulated at multiple levels by Hfq and small RNAs

Anaïs Brosse, Pierre Boudry, Anne Walburger, Axel Magalon, Maude Guillier

Nucleic Acids Res. 2022 Jul 8; 50(12): 6753–6768. Published online 2022 Jun 24. doi: 10.1093/nar/gkac504

PMCID:: PMC9262595

Abstract Article PDF–1.8M

Select item 903628612.

Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity

Piervito Lopriore, Valentina Ricciarini, Gabriele Siciliano, Michelangelo Mancuso, Vincenzo Montano

Neurol Int. 2022 Jun; 14(2): 337–356. Published online 2022 Apr 2. doi: 10.3390/neurolint14020028

PMCID:: PMC9036286

Abstract Article PDF–844K

Select item 894724313.

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Sebastian Kenvin, Ruben Torregrosa-Muñumer, Marco Reidelbach, Jana Pennonen, Jeremi J Turkia, Erika Rannila, Jouni Kvist, Markus T Sainio, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Mari Auranen, Ras Trokovic, Vivek Sharma, Emil Ylikallio, Henna Tyynismaa

Hum Mol Genet. 2022 Mar 15; 31(6): 958–974. Published online 2021 Oct 12. doi: 10.1093/hmg/ddab299

PMCID:: PMC8947243

Abstract Article PDF–2.7M

Select item 892290014.

BDNF-TrkB signaling-mediated upregulation of Narp is involved in the antidepressant-like effects of (2R,6R)-hydroxynorketamine in a chronic restraint stress mouse model

Lingsha Ju, Jiaojiao Yang, Tingting Zhu, Panmiao Liu, Jianjun Yang

BMC Psychiatry. 2022; 22: 182. Published online 2022 Mar 15. doi: 10.1186/s12888-022-03838-x

PMCID:: PMC8922900

Abstract Article PDF–3.6M

Select item 889358915.

Novel Pathogenic Sequence Variation m.5789T>C Causes NARP Syndrome and Promotes Formation of Deletions of the Mitochondrial Genome

Marius Hippen, Gábor Zsurka, Viktoriya Peeva, Judith Machts, Kati Schwiecker, Grazyna Debska-Vielhaber, Rudolf J. Wiesner, Stefan Vielhaber, Wolfram S. Kunz

Neurol Genet. 2022 Apr; 8(2): e660. Published online 2021 Mar 3. doi: 10.1212/NXG.0000000000000660