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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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2017
Ämnen:
Articles
Länkar: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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