Cargando…
Biochemical investigation of a human pathogenic mutation in the nuclear ATP5E gene using yeast as a model
F(1)F(0)-ATP synthase is a key enzyme of the mitochondrial energetic metabolism responsible for the production of most cellular ATP in humans. Mayr et al. (2010) recently described a patient with a homozygote (Y12C) mutation in the nuclear gene ATP5E encoding the ε-subunit of ATP synthase. To better...
| Autores principales: | , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2015
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4407571/ https://www.ncbi.nlm.nih.gov/pubmed/25954304 http://dx.doi.org/10.3389/fgene.2015.00159 |