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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Detalhes bibliográficos
Publicado no:eLife
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: eLife Sciences Publications, Ltd 2019
Assuntos:
Cell Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6861005/
https://ncbi.nlm.nih.gov/pubmed/31682224
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.48828
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