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Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome
Human Tim8a and Tim8b are members of an intermembrane space chaperone network, known as the small TIM family. Mutations in TIMM8A cause a neurodegenerative disease, Mohr-Tranebjærg syndrome (MTS), which is characterised by sensorineural hearing loss, dystonia and blindness. Nothing is known about th...
Autores principales: | Kang, Yilin, Anderson, Alexander J, Jackson, Thomas Daniel, Palmer, Catherine S, De Souza, David P, Fujihara, Kenji M, Stait, Tegan, Frazier, Ann E, Clemons, Nicholas J, Tull, Deidreia, Thorburn, David R, McConville, Malcolm J, Ryan, Michael T, Stroud, David A, Stojanovski, Diana |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
eLife Sciences Publications, Ltd
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861005/ https://www.ncbi.nlm.nih.gov/pubmed/31682224 http://dx.doi.org/10.7554/eLife.48828 |
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