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Σάββατο 24 Νοεμβρίου 2018

Annals of Neurology: Volume 84, Number 5, November 2018

A photomicrograph of HeLa cells expressing amino acids 1‐149 of the protein KCTD7 with a mutation (L108M) seen in patients who have progressive myoclonic epilepsy (EPM3) also known as neuronal ceroid lipofuscinosis (CLN14). The mutant protein has an HA tag that has been stained with red fluorescence to localize the protein, revealing red filaments in the nucleus and in the surrounding cytoplasm. Filament structures are altered by this L108M mutation in the BTB domain of KCTD7. The nucleus of each cell is stained blue. (See Metz et al., pages http://dx.doi.org/10.1002/ana.25351766–780)



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