Molecular basis of autosomal-dominant polycystic kidney disease.

doi:10.1007/s00018-002-8457-z

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Article

Molecular basis of autosomal-dominant polycystic kidney disease.

Cellular and molecular life sciences : CMLS - 1 Apr 2002

Gallagher A R, Hidaka S, Gretz N, Witzgall R

Abstract excerpt

Autosomal-dominant polycystic kidney disease (ADPKD) is one of the most common monogenetic diseases in humans. The discovery that mutations in the PKD1 and PKD2 genes are responsible for ADPKD has sparked extensive research efforts into the physiological and pathogenetic role of polycystin-1 and polycystin-2, the proteins encoded by these two genes. While polycystin-1 may mediate the contact among cells or...

Topics

Animals
Biomarkers
Clusterin
Disease Models, Animal
Glycoproteins
Humans
Kidney
Membrane Proteins
Mice
Models, Biological
Molecular Chaperones
Mutation
Polycystic Kidney, Autosomal Dominant
Protein Structure, Tertiary
Proteins
TRPP Cation Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 12022474
DOI: 10.1007/s00018-002-8457-z
PMCID: PMC11337439

Genes

PKD1
PKD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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