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SKU: 81220795191
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doi: 10.1093/jn/136.3.620

31 In contrast, plasma may have greater sensitivity for diagnosing disorders associated with an accumulation of long-chain acylcarnitines, such as CPT II deficiency (MIM 600649, 608836, 255110) and mitochondrial trifunctional protein deficiency (MIM 609015)

Overexpression of the deSUMOylase SENP5 or the mutation of key lysine residues prevented Drp1 SUMOylation and mitochondrial translocation, rescuing mitochondrial fragmentation, m loss, ROS accumulation and NPC apoptosis