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SEPS1 contributes to the removal and transfer (retrotranslocation) of misfolded proteins from the ER lumen to the cytosol where proteins are tagged with ubiquitin before being degraded

Case description A 6-day-old girl, presenting with feeding difficulties for 6 days, as well as tachypnea and metabolic acidosis for 2 days, was referred to our hospital

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iii) incomplete data or unclear outcome effects

In: ChaudhuryK, editor

This drew our attention to the ubiquitin-related protein UBE2m, which is a ubiquitin-conjugating enzyme essential for the neddylation that was significantly enriched (Fig