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The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.

Allotopic Expression of ATP6 in the Mouse as a Transgenic Model of Mitochondrial Disease

Dunn, David A., Pinkert, Carl A.·2015·Methods in Molecular Biology
DOI 10.1007/978-1-4939-2288-8_18
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Abstract

Progress in animal modeling of polymorphisms and mutations in mitochondrial DNA (mtDNA) is not as developed as nuclear transgenesis due to a host of cellular and physiological distinctions. mtDNA mutation modeling is of critical importance as mutations in the mitochondrial genome give rise to a variety of pathological conditions and play a contributing role in many others. Nuclear localization and transcription of mtDNA genes followed by cytoplasmic translation and transport into mitochondria (allotopic expression, AE) provide an opportunity to create in vivo modeling of a targeted mutation in mitochondrial genes and has been suggested as a strategy for gene replacement therapy in patients harboring mitochondrial DNA mutations. Here, we use our AE approach to transgenic mouse modeling of the pathogenic human T8993G mutation in mtATP6 as a case study for designing AE animal models.

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Crossref · 10.1007/978-1-4939-2288-8_18

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3 of 3 references verified0 citation errors · 0 not checkable

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  • Dunn and Pinkert generated two versions of the nuclear-recoded mouse ATP6 gene: a wildtype and mt8993T > G that causes Leigh's syndrome and NARP in humans.

    “Dunn and Pinkert generated two versions for the nuclear-recoded mouse ATP6 gene: a wildtype and mt8993T > G that causes Leigh’s syndrome and NARP in humans [117,167].”

    From The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics (2022) · cites this paper as [167]

  • Some animal studies targeting the ATP6 and ND4 genes using AE have shown promising data.

    “Despite these difficulties, some animal studies targeting the ATP6 and ND4 genes using AE have shown promising data [128,165,166,167].”

    From The Mitochondrial Genome in Aging and Disease and the Future of Mitochondrial Therapeutics (2022) · cites this paper as [167]

Citations

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Research works printed but not linked: 31

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Metadata

Authors
Dunn, D. A., & Pinkert, C. A.
Venue
Methods in Molecular Biology
Publisher
Springer New York
Published
2015
Pages
255-269
ISSN
  • 1064-3745
  • 1940-6029
DOI
10.1007/978-1-4939-2288-8_18
Cited by
3
References
3
Language
en
Licence

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