BiochemistrybioRxivPreprint
Perilipin 4 repetitive region forms amyloid fibrils promoted by a genetic expansion found in myopathy patients
Charbel Choufani, Nicolas Fuggetta, Cyril Moulin…·Alenka Čopič
This study shows that a genetic expansion in PLIN4 repeats leads to amyloid fibril formation, contributing to myopathy.
DOI 10.1101/2025.06.03.657256