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Optic atrophy–associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I
Mitochondrial disease is a debilitating condition with a diverse genetic etiology. Here, we report that TMEM126A, a protein that is mutated in patients with autosomal-recessive optic atrophy, participates directly in the assembly of mitochondrial complex I. Using a combination of genome editing, int...
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| Publicado no: | Proc Natl Acad Sci U S A |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8092609/ https://ncbi.nlm.nih.gov/pubmed/33879611 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.2019665118 |
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