Mechanisms of nephronophthisis and related ciliopathies

Toby W Hurd, Friedhelm Hildebrandt

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

An emerging group of human genetic diseases termed 'ciliopathies' are caused by dysfunction of two functionally and physically associated organelles, the centrosome and cilium. These organelles are central to perception of the physical environment through detection of a diverse variety of extracellular signals such as growth factors, chemicals, light and fluid flow. Many of the described ciliopathies display multi-organ involvement, with renal and retina being the most commonly affected. Nephronophthisis is a recessive disorder of the kidney that is the leading cause of end-stage renal failure in children. Through positional cloning, many of the causative mutations have been mapped to genes involved in centrosome and cilia function. In this review, we discuss the identified causative mutations that give rise to nephronophthisis and how these are related to the disease etiology in both the kidney and other organs.
Original languageEnglish
Pages (from-to)e9-14
JournalNephron Experimental Nephrology
Volume118
Issue number1
DOIs
Publication statusPublished - 2011

Keywords / Materials (for Non-textual outputs)

  • Adaptor Proteins, Signal Transducing
  • Centrosome
  • Cilia
  • Humans
  • Kidney Diseases, Cystic
  • Membrane Proteins
  • Mutation

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