Biallelic Loss of Molecular Chaperone Molecule AIP Results in a Novel Severe Multisystem Disease Defined by Defective Proteostasis
Márta Korbonits, Xian Wang, Sayka Barry, Chung Thong Lim, Oniz Suleyman, Stefano De Tito, Nazia Uddin, Maria Lillina Vignola, Charlotte Louise Hall, Laura Perna, J. Paul Chapple, Gabor Czbik, Siân M. Henson, Valle Morales, Katiuscia Bianchi, , Oliver Haworth
This study shows that biallelic AIP loss causes a severe pediatric disease with proteostasis defects, observed in human and zebrafish models.
bioRxiv · Aug 8, 2024 · PreprintMolecular Biology