The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Gene therapy for progeny of mito-mice carrying pathogenic mtDNA by nuclear transplantation
Open accessAbstract
Pathogenic mutations in mtDNAs have been shown to be responsible for expression of respiration defects and resultant expression of mitochondrial diseases. This study directly addressed the issue of gene therapy of mitochondrial diseases by using nuclear transplantation of zygotes of transmitochondria mice (mito-mice). Mito-mice expressed respiration defects and mitochondrial diseases due to accumulation of mtDNA carrying a large-scale deletion (DeltamtDNA). Second polar bodies were used as biopsy samples for diagnosis of mtDNA genotypes of mito-mouse zygotes. Nuclear transplantation was carried out from mito-mouse zygotes to enucleated normal zygotes and was shown to rescue all of the F(0) progeny from expression of respiration defects throughout their lives. This procedure should be applicable to patients with mitochondrial diseases for preventing their children from developing the diseases.
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“Previous studies in heteroplasmic mice have suggested the feasibility of this approach [253].”
From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [253]
Citations
Cites
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Cited by
Sorted by citations
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676
“Previous studies in heteroplasmic mice have suggested the feasibility of this approach [253].”
BackgroundMitochondrial DNA Genetics and the Heteroplasmy Conundrum in Evolution and DiseasePreprint
Dc, W., & Chalkia, D. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a021220 · Cited by 680
Mitochondrial ATP synthase: architecture, function and pathology
Jonckheere, A. I., Smeitink, J. A. M., & Rodenburg, R. J. T. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9382-9 · Cited by 605
Mitochondrial gene replacement in primate offspring and embryonic stem cells
Tachibana, M., Sparman, M. L., Sritanaudomchai, H., Ma, H., Clepper, L., Woodward, J., Li, Y., Ramsey, C. M., Kolotushkina, O., & Mitalipov, S. M. (2009) · Nature · doi:10.1038/nature08368 · Cited by 565
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
Craven, L., Tuppen, H. A. L., Greggains, G. D., Harbottle, S. J., Murphy, J. L., Cree, L. M., Murdoch, A. P., Chinnery, P. F., Taylor, R. W., Lightowlers, R. N., et al. (2010) · Nature · doi:10.1038/nature08958 · Cited by 478
Metadata
- Authors
- Sato, A., Kono, T., Nakada, K., Ishikawa, K., Inoue, S.-I., Yonekawa, H., & Hayashi, J.-I.
- Affiliations
- Tokyo University of Agriculture (JP)
- Graduate School of Life and Environmental Sciences, Center for Tsukuba Advanced Research Alliance (TARA), University of Tsukuba, Ibaraki 305-8572, Japan; Department of Laboratory Animal Science, Tokyo Metropolitan Institute of Medical Science, Tokyo 113-8613, Japan; Department of BioScience, Tokyo University of Agriculture, Tokyo 156-8502, Japan; and Precursory Research for Embryonic Science and Technology, Japan Science and Technology Agency, Saitama 332-0012, Japan
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2005-11-07
- Volume
- 102
- Issue
- 46
- Pages
- 16765-16770
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC1283814
- OpenAlex
- W2063371306
- Cited by
- 171
- References
- 22
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 3 · 2023: 8 · 2022: 3 · 2021: 9 · 2020: 8 · 2019: 6 · 2018: 8 · 2017: 10 · 2016: 12 · 2015: 6 · 2014: 13 · 2013: 10 · 2012: 4
- FWCI
- 3.53
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Animal Genetics and Reproduction
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Keywords
- gene therapy, mitochondrial disease, nuclear transplantation, mitochondrial DNA deletions, polar body biopsy, mitochondrial DNA
- MeSH terms
- Aging, Animals, DNA, Mitochondrial, Genotype, Growth, Mice, Inbred C57BL, Mice, Mutant Strains, Oxygen Consumption, Phenotype, Blotting, Southern, Genetic Therapy, Fetal Development, Mice, Nuclear Transfer Techniques
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