Articles with "loss slc25a46" as a keyword



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

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Published in 2017 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddx262

Abstract: 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… read more here.

Keywords: slc25a46 causes; mice; slc25a46; mitochondrial dynamics ... See more keywords