Travis A. K. Bannell

Structural modelling predicts that fibrocystin destabilisation is a pathogenic cause of ARPKD

ARPKD is a severe autosomal recessive inherited disorder that is primarily caused by mutations in the PKHD1 gene, which encodes fibrocystin, a 4047-residue transmembrane protein of poorly understood structure and function. ARPKD patients with two null PKHD1 alleles usually die during the neonatal period. Patients with...