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For: Bianco A, Bisceglia L, Russo L, Palese LL, D'Agruma L, Emperador S, Montoya J, Guerriero S, Petruzzella V. High Mitochondrial DNA Copy Number Is a Protective Factor From Vision Loss in Heteroplasmic Leber's Hereditary Optic Neuropathy (LHON). ACTA ACUST UNITED AC 2017;58:2193-2197. [DOI: 10.1167/iovs.16-20389] [Citation(s) in RCA: 24] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [What about the content of this article? (0)] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/24/2022]
Number Cited by Other Article(s)
1
Parchwani D, Singh R, Patel D. Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance. World J Methodol 2025;15:102709. [DOI: 10.5662/wjm.v15.i3.102709] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 10/26/2024] [Revised: 01/21/2025] [Accepted: 02/08/2025] [Indexed: 03/06/2025]  Open
2
Halawani MA, Badeeb NO. The crossroads of Leber hereditary optic neuropathy and autosomal dominant optic Atrophy: Clinical profiles of patients with coexisting pathogenic genetic variants. Am J Ophthalmol Case Rep 2025;38:102346. [PMID: 40417638 PMCID: PMC12099837 DOI: 10.1016/j.ajoc.2025.102346] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/19/2024] [Revised: 04/22/2025] [Accepted: 04/27/2025] [Indexed: 05/27/2025]  Open
3
Shi Y, Xie J, Jiang J, Yan X, Chen X, Hong S, Liu J, Xu G, Su H, Chen W, Wang N, Lin X. A Homoplasmic MT-TV Mutation Associated with Mitochondrial Inheritance of Hereditary Spastic Paraplegia. Mov Disord 2025;40:168-173. [PMID: 39468830 DOI: 10.1002/mds.30048] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/29/2024] [Revised: 09/12/2024] [Accepted: 10/15/2024] [Indexed: 10/30/2024]  Open
4
Vallabh NA, Lane B, Simpson D, Fuchs M, Choudhary A, Criddle D, Cheeseman R, Willoughby C. Massively parallel sequencing of mitochondrial genome in primary open angle glaucoma identifies somatically acquired mitochondrial mutations in ocular tissue. Sci Rep 2024;14:26324. [PMID: 39487142 PMCID: PMC11530638 DOI: 10.1038/s41598-024-72684-6] [Citation(s) in RCA: 4] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/20/2024] [Accepted: 09/10/2024] [Indexed: 11/04/2024]  Open
5
Landoni JC, Erkul S, Laalo T, Goffart S, Kivelä R, Skube K, Nieminen AI, Wickström SA, Stewart J, Suomalainen A. Overactive mitochondrial DNA replication disrupts perinatal cardiac maturation. Nat Commun 2024;15:8066. [PMID: 39277581 PMCID: PMC11401880 DOI: 10.1038/s41467-024-52164-1] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2023] [Accepted: 08/26/2024] [Indexed: 09/17/2024]  Open
6
Pasqualotto BA, Nelson A, Deheshi S, Sheldon CA, Vogl AW, Rintoul GL. Impaired mitochondrial morphological plasticity and failure of mitophagy associated with the G11778A mutation of LHON. Biochem Biophys Res Commun 2024;721:150119. [PMID: 38768545 DOI: 10.1016/j.bbrc.2024.150119] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/04/2024] [Revised: 05/07/2024] [Accepted: 05/13/2024] [Indexed: 05/22/2024]
7
Lam BL. Leber hereditary optic neuropathy gene therapy. Curr Opin Ophthalmol 2024;35:244-251. [PMID: 38117686 PMCID: PMC10959684 DOI: 10.1097/icu.0000000000001028] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/22/2023]
8
Vallbona-Garcia A, Lindsey PJ, Kamps R, Stassen APM, Nguyen N, van Tienen FHJ, Hamers IHJ, Hardij R, van Gisbergen MW, Benedikter BJ, de Coo IFM, Webers CAB, Gorgels TGMF, Smeets HJM. Mitochondrial DNA D-loop variants correlate with a primary open-angle glaucoma subgroup. FRONTIERS IN OPHTHALMOLOGY 2024;3:1309836. [PMID: 38983060 PMCID: PMC11182222 DOI: 10.3389/fopht.2023.1309836] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Subscribe] [Scholar Register] [Received: 10/08/2023] [Accepted: 12/29/2023] [Indexed: 07/11/2024]
9
Schrott S, Osman C. Two mitochondrial HMG-box proteins, Cim1 and Abf2, antagonistically regulate mtDNA copy number in Saccharomyces cerevisiae. Nucleic Acids Res 2023;51:11813-11835. [PMID: 37850632 PMCID: PMC10681731 DOI: 10.1093/nar/gkad849] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/19/2023] [Revised: 08/21/2023] [Accepted: 09/24/2023] [Indexed: 10/19/2023]  Open
10
Shamsnajafabadi H, MacLaren RE, Cehajic-Kapetanovic J. Current and Future Landscape in Genetic Therapies for Leber Hereditary Optic Neuropathy. Cells 2023;12:2013. [PMID: 37566092 PMCID: PMC10416882 DOI: 10.3390/cells12152013] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/25/2023] [Revised: 07/27/2023] [Accepted: 07/31/2023] [Indexed: 08/12/2023]  Open
11
Picca A, Guerra F, Calvani R, Coelho-Júnior HJ, Leeuwenburgh C, Bucci C, Marzetti E. The contribution of mitochondrial DNA alterations to aging, cancer, and neurodegeneration. Exp Gerontol 2023;178:112203. [PMID: 37172915 DOI: 10.1016/j.exger.2023.112203] [Citation(s) in RCA: 16] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/03/2023] [Revised: 04/24/2023] [Accepted: 05/09/2023] [Indexed: 05/15/2023]
12
Vallbona-Garcia A, Hamers IHJ, van Tienen FHJ, Ochoteco-Asensio J, Berendschot TTJM, de Coo IFM, Benedikter BJ, Webers CAB, Smeets HJM, Gorgels TGMF. Low mitochondrial DNA copy number in buffy coat DNA of primary open-angle glaucoma patients. Exp Eye Res 2023;232:109500. [PMID: 37178956 DOI: 10.1016/j.exer.2023.109500] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/02/2023] [Revised: 04/22/2023] [Accepted: 05/09/2023] [Indexed: 05/15/2023]
13
Holt AG, Davies AM. A comparison of mtDNA deletion mutant proliferation mechanisms. J Theor Biol 2022;551-552:111244. [PMID: 35973607 DOI: 10.1016/j.jtbi.2022.111244] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/26/2022] [Revised: 07/17/2022] [Accepted: 08/08/2022] [Indexed: 11/18/2022]
14
Andreeva NA, Murakhovskaya YK, Tsygankova PG, Krilova TD, Sheremet NL. [Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation]. Vestn Oftalmol 2022;138:208-214. [PMID: 36287157 DOI: 10.17116/oftalma2022138052208] [Citation(s) in RCA: 3] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 06/16/2023]
15
Blood biomarkers for assessment of mitochondrial dysfunction: An expert review. Mitochondrion 2021;62:187-204. [PMID: 34740866 DOI: 10.1016/j.mito.2021.10.008] [Citation(s) in RCA: 26] [Impact Index Per Article: 6.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/13/2021] [Revised: 09/28/2021] [Accepted: 10/28/2021] [Indexed: 12/20/2022]
16
Meunier I, Bocquet B, Defoort-Dhellemmes S, Smirnov V, Arndt C, Picot MC, Dollfus H, Charif M, Audo I, Huguet H, Zanlonghi X, Lenaers G. Characterization of SSBP1-related optic atrophy and foveopathy. Sci Rep 2021;11:18703. [PMID: 34548540 PMCID: PMC8455542 DOI: 10.1038/s41598-021-98150-1] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/02/2021] [Accepted: 09/03/2021] [Indexed: 11/17/2022]  Open
17
Zanfardino P, Doccini S, Santorelli FM, Petruzzella V. Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain. Int J Mol Sci 2021;22:8325. [PMID: 34361091 PMCID: PMC8348117 DOI: 10.3390/ijms22158325] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/16/2021] [Revised: 07/29/2021] [Accepted: 07/30/2021] [Indexed: 12/15/2022]  Open
18
Li J, Tran OT, Crowley TB, Moore TM, Zackai EH, Emanuel BS, McDonald-McGinn DM, Gur RE, Wallace DC, Anderson SA. Association of Mitochondrial Biogenesis With Variable Penetrance of Schizophrenia. JAMA Psychiatry 2021;78:911-921. [PMID: 34009292 PMCID: PMC8135063 DOI: 10.1001/jamapsychiatry.2021.0762] [Citation(s) in RCA: 32] [Impact Index Per Article: 8.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 11/14/2022]
19
Ng WSV, Trigano M, Freeman T, Varrichio C, Kandaswamy DK, Newland B, Brancale A, Rozanowska M, Votruba M. New avenues for therapy in mitochondrial optic neuropathies. THERAPEUTIC ADVANCES IN RARE DISEASE 2021;2:26330040211029037. [PMID: 37181108 PMCID: PMC10032437 DOI: 10.1177/26330040211029037] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 03/26/2021] [Accepted: 06/10/2021] [Indexed: 05/16/2023]
20
Filograna R, Mennuni M, Alsina D, Larsson NG. Mitochondrial DNA copy number in human disease: the more the better? FEBS Lett 2020;595:976-1002. [PMID: 33314045 PMCID: PMC8247411 DOI: 10.1002/1873-3468.14021] [Citation(s) in RCA: 271] [Impact Index Per Article: 54.2] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/22/2020] [Revised: 11/02/2020] [Accepted: 11/26/2020] [Indexed: 12/19/2022]
21
Jiang P, Zhang S, Cheng C, Gao S, Tang M, Lu L, Yang G, Chai R. The Roles of Exosomes in Visual and Auditory Systems. Front Bioeng Biotechnol 2020;8:525. [PMID: 32582658 PMCID: PMC7283584 DOI: 10.3389/fbioe.2020.00525] [Citation(s) in RCA: 19] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/15/2020] [Accepted: 05/04/2020] [Indexed: 12/16/2022]  Open
22
Bahr T, Welburn K, Donnelly J, Bai Y. Emerging model systems and treatment approaches for Leber's hereditary optic neuropathy: Challenges and opportunities. Biochim Biophys Acta Mol Basis Dis 2020;1866:165743. [PMID: 32105823 PMCID: PMC9252426 DOI: 10.1016/j.bbadis.2020.165743] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/11/2019] [Revised: 02/17/2020] [Accepted: 02/21/2020] [Indexed: 12/24/2022]
23
Shim HB, Arshad O, Gadawska I, Côté HCF, Hsieh AYY. Platelet mtDNA content and leukocyte count influence whole blood mtDNA content. Mitochondrion 2020;52:108-114. [PMID: 32156645 DOI: 10.1016/j.mito.2020.03.001] [Citation(s) in RCA: 17] [Impact Index Per Article: 3.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2019] [Revised: 02/28/2020] [Accepted: 03/04/2020] [Indexed: 02/06/2023]
24
Sheremet NL, Andreeva NA, Shmel'kova MS, Tsigankova PG. [Mitochondrial biogenesis in hereditary optic neuropathies]. Vestn Oftalmol 2019;135:85-91. [PMID: 31714518 DOI: 10.17116/oftalma201913505185] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/12/2022]
25
Treatment strategies for Leber hereditary optic neuropathy. Curr Opin Neurol 2019;32:99-104. [PMID: 30516647 DOI: 10.1097/wco.0000000000000646] [Citation(s) in RCA: 24] [Impact Index Per Article: 4.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/18/2022]
26
Li S, Duan S, Qin Y, Lin S, Zheng K, Li X, Zhang L, Gu X, Yao K, Wang B. Leber's Hereditary Optic Neuropathy-Specific Heteroplasmic Mutation m.14495A>G Found in a Chinese Family. Transl Vis Sci Technol 2019;8:3. [PMID: 31316863 PMCID: PMC6615366 DOI: 10.1167/tvst.8.4.3] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/01/2018] [Accepted: 05/06/2019] [Indexed: 01/25/2023]  Open
27
Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V. Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers. BMC Res Notes 2018;11:911. [PMID: 30572950 PMCID: PMC6302380 DOI: 10.1186/s13104-018-4025-y] [Citation(s) in RCA: 25] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/28/2018] [Accepted: 12/17/2018] [Indexed: 01/06/2023]  Open
28
Bioactivity and gene expression profiles of hiPSC-generated retinal ganglion cells in MT-ND4 mutated Leber's hereditary optic neuropathy. Exp Cell Res 2018;363:299-309. [PMID: 29366807 DOI: 10.1016/j.yexcr.2018.01.020] [Citation(s) in RCA: 32] [Impact Index Per Article: 4.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/13/2017] [Revised: 01/09/2018] [Accepted: 01/15/2018] [Indexed: 01/01/2023]
29
Inoue-Yanagimachi M, Himori N, Sato K, Kokubun T, Asano T, Shiga Y, Tsuda S, Kunikata H, Nakazawa T. Association between mitochondrial DNA damage and ocular blood flow in patients with glaucoma. Br J Ophthalmol 2018;103:1060-1065. [DOI: 10.1136/bjophthalmol-2018-312356] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/03/2018] [Revised: 07/24/2018] [Accepted: 08/13/2018] [Indexed: 02/03/2023]
30
Bianco A, Bisceglia L, De Caro MF, Galeandro V, De Bonis P, Tullo A, Zoccolella S, Guerriero S, Petruzzella V. Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report. BMC MEDICAL GENETICS 2018;19:129. [PMID: 30053855 PMCID: PMC6062935 DOI: 10.1186/s12881-018-0644-3] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Received: 02/09/2018] [Accepted: 07/12/2018] [Indexed: 01/07/2023]
31
Finsterer J, Zarrouk-Mahjoub S. Phenotypic manifestations of the m.8969G>A variant. Neurogenetics 2018;19:131-132. [DOI: 10.1007/s10048-018-0543-y] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/21/2018] [Accepted: 02/17/2018] [Indexed: 10/17/2022]
32
Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch R, López-Gallardo E, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E. The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient. Front Neurosci 2018;12:61. [PMID: 29479304 PMCID: PMC5811516 DOI: 10.3389/fnins.2018.00061] [Citation(s) in RCA: 17] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/27/2017] [Accepted: 01/24/2018] [Indexed: 11/13/2022]  Open
33
Leber hereditary optic neuropathy: bridging the translational gap. Curr Opin Ophthalmol 2017. [PMID: 28650878 PMCID: PMC5562441 DOI: 10.1097/icu.0000000000000410] [Citation(s) in RCA: 39] [Impact Index Per Article: 4.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
34
Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V. Incomplete penetrance in mitochondrial optic neuropathies. Mitochondrion 2017;36:130-137. [PMID: 28716668 DOI: 10.1016/j.mito.2017.07.004] [Citation(s) in RCA: 49] [Impact Index Per Article: 6.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/08/2016] [Revised: 06/27/2017] [Accepted: 07/13/2017] [Indexed: 01/06/2023]
35
Catarino CB, Klopstock T. Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy. JOURNAL OF INBORN ERRORS OF METABOLISM AND SCREENING 2017. [DOI: 10.1177/2326409817731112] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/16/2022]  Open
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