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Article

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

Human molecular genetics - 1 Oct 2017

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

Abstract excerpt

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-related neuropathies are not fully understood. Thus, we generated a Slc25a46 knock-out mouse model. Mice lacking...

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Identifiers

PMID: 28934388
DOI: 10.1093/hmg/ddx262
PMCID: PMC6074941

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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