Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

Recently, we identified biallelic mutations of SLC25A46 in patients with multiple neuropathies. Functional studies revealed that SLC25A46 may play an important role in mitochondrial dynamics by mediating mitochondrial fission. However, the cellular basis and pathogenic mechanism of the SLC25A46-rela...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Li, Zhuo, Peng, Yanyan, Hufnagel, Robert B., Hu, Yueh-Chiang, Zhao, Chuntao, Queme, Luis F., Khuchua, Zaza, Driver, Ashley M., Dong, Fei, Lu, Q. Richard, Lindquist, Diana M., Jankowski, Michael P., Stottmann, Rolf W., Kao, Winston W.Y., Huang, Taosheng
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6074941/
https://ncbi.nlm.nih.gov/pubmed/28934388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx262
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