Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

Vertebrate respiratory chain complex III consists of eleven subunits. Mutations in five subunits either mitochondrial (MT-CYB) or nuclear (CYC1, UQCRC2, UQCRB, and UQCRQ) encoded have been reported. Defects in five further factors for assembly (TTC19, UQCC2, and UQCC3) or iron-sulphur cluster loadin...

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Detalles Bibliográficos
Autores principales: Feichtinger, René G., Brunner-Krainz, Michaela, Alhaddad, Bader, Wortmann, Saskia B., Kovacs-Nagy, Reka, Stojakovic, Tatjana, Erwa, Wolfgang, Resch, Bernhard, Windischhofer, Werner, Verheyen, Sarah, Uhrig, Sabine, Windpassinger, Christian, Sternberg, Felix, Makowski, Christine, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang, Haack, Tobias B., Mayr, Johannes A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5540226/
https://www.ncbi.nlm.nih.gov/pubmed/28804536
http://dx.doi.org/10.1155/2017/7202589

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