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...
Travis A. K. Bannell, Naveen Mathew, K. Burgmaier et al.
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