Article

Loss of PREPL alters lipid homeostasis due to mitochondrial defects

2025-10-28

Abstract excerpt

Loss of the prolyl endopeptidase-like (PREPL) protein causes congenital myasthenic syndrome-22 (CMS22), a rare neuromuscular and metabolic disorder. PREPL belongs to the serine hydrolase superfamily, but its physiological substrates remain unknown. Based on the predicted lipid binding pocket in its crystal structure and its in vitro esterase activity, we hypothesized that PREPL might act as a lipase in vivo and...

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Literature Corpus work: ff543b2f-5cae-5302-8910-2df19b8a3222
DOI: 10.1101/2025.10.28.685080

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