相似文献
1
Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease.
Cold Spring Harb Perspect Biol. 2013 Nov 1;5(11):a021220. doi: 10.1101/cshperspect.a021220.
2
Gaining Insight into Mitochondrial Genetic Variation and Downstream Pathophysiology: What Can i(PSCs) Do?
Genes (Basel). 2021 Oct 22;12(11):1668. doi: 10.3390/genes12111668.
3
A Naturally Heteroplasmic Clam Provides Clues about the Effects of Genetic Bottleneck on Paternal mtDNA.
Genome Biol Evol. 2021 Mar 1;13(3). doi: 10.1093/gbe/evab022.
4
Biparental Inheritance of Mitochondrial DNA in Humans.
Proc Natl Acad Sci U S A. 2018 Dec 18;115(51):13039-13044. doi: 10.1073/pnas.1810946115. Epub 2018 Nov 26.
5
Assaying the probabilities of obtaining maternally inherited heteroplasmy as the basis for modeling OXPHOS diseases in animals.
Biochim Biophys Acta. 2006 May-Jun;1757(5-6):679-85. doi: 10.1016/j.bbabio.2006.05.021. Epub 2006 May 19.
6
Significance of Mitochondria DNA Mutations in Diseases.
Adv Exp Med Biol. 2017;1038:219-230. doi: 10.1007/978-981-10-6674-0_15.
7
Modulating mitochondrial quality in disease transmission: towards enabling mitochondrial DNA disease carriers to have healthy children.
Biochem Soc Trans. 2016 Aug 15;44(4):1091-100. doi: 10.1042/BST20160095.
8
Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications.
Reproduction. 2002 Jun;123(6):751-5. doi: 10.1530/rep.0.1230751.
9
Paternal leakage of mitochondrial DNA and maternal inheritance of heteroplasmy in Drosophila hybrids.
Sci Rep. 2020 Feb 13;10(1):2599. doi: 10.1038/s41598-020-59194-x.
10
Genetic Counselling for Maternally Inherited Mitochondrial Disorders.
Mol Diagn Ther. 2017 Aug;21(4):419-429. doi: 10.1007/s40291-017-0279-7.
引用本文的文献
1
Preclinical models of mitochondrial dysfunction: mtDNA and nuclear-encoded regulators in diverse pathologies.
Front Aging. 2025 Jun 23;6:1585508. doi: 10.3389/fragi.2025.1585508. eCollection 2025.
2
Advances in Management of Mitochondrial Myopathies.
Int J Mol Sci. 2025 Jun 5;26(11):5411. doi: 10.3390/ijms26115411.
3
Cytoplasmic inheritance: The transmission of plastid and mitochondrial genomes across cells and generations.
Plant Physiol. 2025 Apr 30;198(1). doi: 10.1093/plphys/kiaf168.
4
Taurine supplementation improves physical activity level in a hemodialysis patient with mitochondrial disease: a case report.
CEN Case Rep. 2025 Apr 16. doi: 10.1007/s13730-025-00992-5.
5
A leigh syndrome mutation perturbs long-range energy coupling in respiratory complex I.
Chem Sci. 2025 Mar 21;16(17):7374-7386. doi: 10.1039/d4sc04036h. eCollection 2025 Apr 30.
6
A New Perspective on the Role of Alterations in Mitochondrial Proteins Involved in ATP Synthesis and Mobilization in Cardiomyopathies.
Int J Mol Sci. 2025 Mar 19;26(6):2768. doi: 10.3390/ijms26062768.
7
The landscape of cell lineage tracing.
Sci China Life Sci. 2025 Feb 28. doi: 10.1007/s11427-024-2751-6.
8
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.
Mol Genet Metab. 2025 Mar;144(3):109049. doi: 10.1016/j.ymgme.2025.109049. Epub 2025 Feb 7.
9
Overview of neuroimaging in primary mitochondrial disorders.
Pediatr Radiol. 2025 Apr;55(4):765-791. doi: 10.1007/s00247-025-06172-y. Epub 2025 Feb 12.
10
Mitochondrial diseases: from molecular mechanisms to therapeutic advances.
Signal Transduct Target Ther. 2025 Jan 10;10(1):9. doi: 10.1038/s41392-024-02044-3.
本文引用的文献
1
Bioenergetics in human evolution and disease: implications for the origins of biological complexity and the missing genetic variation of common diseases.
Philos Trans R Soc Lond B Biol Sci. 2013 Jun 10;368(1622):20120267. doi: 10.1098/rstb.2012.0267. Print 2013 Jul 19.
2
A mitochondrial bioenergetic etiology of disease.
J Clin Invest. 2013 Apr;123(4):1405-12. doi: 10.1172/JCI61398. Epub 2013 Apr 1.
3
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup.
Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3453-8. doi: 10.1073/pnas.1300690110. Epub 2013 Feb 11.
4
Mutation dependance of the mitochondrial DNA copy number in the first stages of human embryogenesis.
Hum Mol Genet. 2013 May 1;22(9):1867-72. doi: 10.1093/hmg/ddt040. Epub 2013 Feb 5.
5
Preventing the transmission of pathogenic mitochondrial DNA mutations: Can we achieve long-term benefits from germ-line gene transfer?
Hum Reprod. 2013 Mar;28(3):554-9. doi: 10.1093/humrep/des439. Epub 2013 Jan 7.
6
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants.
Nature. 2013 Jan 31;493(7434):632-7. doi: 10.1038/nature11800. Epub 2012 Dec 19.
7
Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism.
Cold Spring Harb Perspect Biol. 2012 Nov 1;4(11):a011338. doi: 10.1101/cshperspect.a011338.
8
Towards germline gene therapy of inherited mitochondrial diseases.
Nature. 2013 Jan 31;493(7434):627-31. doi: 10.1038/nature11647. Epub 2012 Oct 24.
9
Universal heteroplasmy of human mitochondrial DNA.
Hum Mol Genet. 2013 Jan 15;22(2):384-90. doi: 10.1093/hmg/dds435. Epub 2012 Oct 16.
10
Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition.
Cell. 2012 Oct 12;151(2):333-343. doi: 10.1016/j.cell.2012.09.004.
Zotero 插件