1: Suda K, Ueoka I, Azuma Y, Muraoka Y, Yoshida H, Yamaguchi M. Novel Drosophila model for mitochondrial diseases by targeting of a solute carrier protein SLC25A46. Brain Res. 2018 Mar 28. pii: S0006-8993(18)30163-X. PMID: 29604258.
From the abstract: "Mutations in SLC25A46 gene have been identified in mitochondrial diseases that are sometimes classified as Charcot-Marie-Tooth disease type 2, optic atrophy and Leigh syndrome. Human SLC25A46 functions as a transporter across the outer mitochondrial membrane. However, it is still unknown how the neurodegeneration occurring in these diseases relates to the loss of SLC25A46 function. Drosophila has CG5755 (dSLC25A46) as a single human SLC25A46 homolog. Here we established pan-neuron specific dSLC25A46 knockdown flies, and examined their phenotypes. ... The dSLC25A46 knockdown fly ... recapitulates most of the phenotypes in mitochondrial disease patients, providing a useful tool to study these diseases."
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