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Interestingly, PNPLA3 I148M is not properly targeted by the UPS which likely promotes the disease-causing variant to accumulate on LDs (135) where it can disrupt protein-protein interactions critical for TAG hydrolysis (70, 75)

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These presentations may indicate conditions requiring investigation, including thyroid disorders, cardiovascular issues, pancreatitis, gallbladder disease, or other endocrine abnormalities

doi: 10.1016/j.molmet.2019.08.013 48 HyerKLHgildMLListEOLeeKYKissingerESharmaRet al

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