cell biology of polycystic kidney disease

Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epitheli...

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Bibliographic Details
Published in:The Journal of cell biology 2010-11, Vol.191 (4), p.701-710
Main Authors: Chapin, Hannah C, Caplan, Michael J
Format: Article
Language:English
Subjects:
Animals
Autosomal dominant polycystic kidney
Autosomal recessive polycystic kidney
Cell growth
Cellular biology
Cilia
Cystic kidney diseases
Cysts
Gene expression
Genetic disorders
GTP-Binding Proteins - metabolism
Humans
Kidney - pathology
Kidney - physiopathology
Kidney diseases
Kidneys
Models, Molecular
Mutation
Pathogenesis
Polycystic kidney diseases
Polycystic Kidney, Autosomal Dominant - genetics
Polycystic Kidney, Autosomal Dominant - pathology
Polycystic Kidney, Autosomal Dominant - physiopathology
Proteins
Review
Reviews
Signal Transduction - physiology
TRPP cation channels
TRPP Cation Channels - chemistry
TRPP Cation Channels - genetics
TRPP Cation Channels - metabolism
Wnt Proteins - metabolism
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Summary:Polycystic kidney disease is a common genetic disorder in which fluid-filled cysts displace normal renal tubules. Here we focus on autosomal dominant polycystic kidney disease, which is attributable to mutations in the PKD1 and PKD2 genes and which is characterized by perturbations of renal epithelial cell growth control, fluid transport, and morphogenesis. The mechanisms that connect the underlying genetic defects to disease pathogenesis are poorly understood, but their exploration is shedding new light on interesting cell biological processes and suggesting novel therapeutic targets.
ISSN:0021-9525
1540-8140
DOI:10.1083/jcb.201006173