… a short cytoplasmic C-terminal tail that contains various motifs … channel at the primary cilium
and plasma membrane 25,26 . … underlying the genetic interaction between Pkhd1 and Pkd1 …

… membrane spanning protein, fibrocystin/polyductin (FPC), is challenging for exploring the
pathogenesis of PKHD1 … from PKDH1 mutants showed few primary cilia in the tubular epithelia …

… Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane,
primary cilium, and cytoplasm. Kidney International, 66(4), 1345–1355. Miller, S., Schuler, B., …

… protein product of this gene is called the FPC/polyductin … , which extends over about 470 kb
and includes at least 66 exons with a … FPC is mainly localized to primary cilia and is currently …

… the PKHD1 gene, which encodes the fibrocystin/polyductin (… One day prior to transfection,
primary human renal epithelial … to the cytoplasm and decorated the cell membrane (Figure 2B, …

… with the discovery of PKHD1 as the main ARPKD gene [47,48… and localization of the
fibrocystin/polyductin protein. Finally, … correct characterization of all its isoforms. Importantly, the …

… Unless otherwise stated, the work presented within this thesis has not been presented to any
… within this study is my own and appropriate accreditation has been given where necessary. …

… /polyductin (PKHD1), with a fairly restricted expression mainly … PKHD1 has been shown to
localise to primary cilia and … Functional investigations into the splicing isoforms of PKHD1 is …

… complex localized in the primary cilium. Predominant ARPKD … 1 (PKHD1) gene that encodes
the Fibrocystin/Polyductin (FPC… membrane, which is continuous with the plasma membrane. …

… called Fibrocystin/Polyductin (FPC) encoded by the PKHD1 ciliary IPT domain … PKHD1;
localization of FPC protein in cells includes primary cilium, cilium base body, plasma membrane, …