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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2019
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