Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems
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Le résumé fourni par la source
Autosomal recessive polycystic kidney disease (ARPKD) is the prototype of the hepato-renal fibrocystic diseases, a subset of the broader ciliopathy disorders. As a severe form of PKD, ARPKD typically manifests in utero with 21% perinatal mortality and progressive loss of kidney function in most post-natal survivors. Congenital hepatic fibrosis is an invariant feature of ARPKD. PKHD1-encoded fibrocystin/polyductin (FPC) is a large 4074 amino acid glycoprotein that likely functions as a receptor molecule and appears to play a key role in maintaining differentiated renal tubular epithelium. The molecular mechanisms by which defects in FPC contribute to ARPKD pathogenesis are just beginning to be elucidated. FPC is a novel protein that likely evolved as vertebrates transitioned from aquatic to semi-terrestrial ecosystems. Full-length human FPC shares a phylogenetically conserved, multi-motif N-terminal region with its ancestral homolog, PKHD1L1, and contains a single-pass transmembrane domain and a novel C-terminal tail that harbors a ciliary targeting motif as well as mitochondrial and nuclear localization sequences. This review synthesizes the full range of recent experimental data about PKHD1/FPC to provide a current functional perspective about this complex protein. We also discuss the clinical relevance of these emerging functional insights for both kidney health and ARPKD pathogenesis.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Fibrocystin/polyductin (FPC): new functional insights into ARPKD pathogenesis revealed by informatics, comparative genomics, and model systems
- Date Crossref
- 28/01/2026
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Children's National Center for Precision Medicine and Genomics Research pays non établi dans la noticeÉtablissement de santé
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George Washington University pays non établi dans la noticeUniversité ou école supérieure
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Children's Hospital of Philadelphia pays non établi dans la noticeOrganisme public
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University of Pennsylvania pays non établi dans la noticeUniversité ou école supérieure
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School of Medicine and Health Sciences Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
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Perelman School of Medicine Department of Pediatrics pays non établi dans la noticeUniversité ou école supérieure
Center for Precision Medicine and Genomics Research — Children's National, George Washington University et Children's Hospital of Philadelphia, avec 3 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.