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Structural insight and characterization of human Twinkle helicase in mitochondrial disease
Twinkle is the mammalian helicase vital for replication and integrity of mitochondrial DNA. Over 90 Twinkle helicase disease variants have been linked to progressive external ophthalmoplegia and ataxia neuropathies among other mitochondrial diseases. Despite the biological and clinical importance, T...
Autores principales: | Riccio, Amanda A., Bouvette, Jonathan, Perera, Lalith, Longley, Matthew J., Krahn, Juno M., Williams, Jason G., Dutcher, Robert, Borgnia, Mario J., Copeland, William C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
National Academy of Sciences
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9371709/ https://www.ncbi.nlm.nih.gov/pubmed/35914129 http://dx.doi.org/10.1073/pnas.2207459119 |
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