Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

ATP synthase, H(+) transporting, mitochondrial F1 complex, δ subunit (ATP5F1D; formerly ATP5D) is a subunit of mitochondrial ATP synthase and plays an important role in coupling proton translocation and ATP production. Here, we describe two individuals, each with homozygous missense variants in ATP5...

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Autores principales: Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Huang, Yong, Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Waters, Katrina M., Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Yamamoto, Shinya, Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., Wheeler, Matthew T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117612/
https://www.ncbi.nlm.nih.gov/pubmed/29478781
http://dx.doi.org/10.1016/j.ajhg.2018.01.020

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