Molecular BiologybioRxivPreprint
Biallelic Loss of Molecular Chaperone Molecule AIP Results in a Novel Severe Multisystem Disease Defined by Defective Proteostasis
Márta Korbonits, Xian Wang, Sayka Barry…·Oliver Haworth
This study shows that biallelic AIP loss causes a severe pediatric disease with proteostasis defects, observed in human and zebrafish models.