Perilipin 4 repetitive region forms amyloid fibrils promoted by a genetic expansion found in myopathy patients
Charbel Choufani, Nicolas Fuggetta, Cyril Moulin, Bayane Sabbagh, Céline Franckhauser, Sébastien Lyonnais, Ana‐Andreea Arteni, Sylvie Rouquier, Tinkara Perme, Sophie Pagnotta, Alessandra Ruggieri, Luc Bousset, Alenka Čopič
This study shows that a genetic expansion in PLIN4 repeats leads to amyloid fibril formation, contributing to myopathy.
bioRxiv · Jun 3, 2025 · PreprintBiochemistry