Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Ciliopathy is a collection of disorders with similar phenotyp whose common pathogenetic feature a disorder of the cellular cilium morphologically or functionally.
| Retinal dystrophy | |
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Ciliopathies may show retinal dystrophy of various degrees of severity. |
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Tan MH et al. (2009) Gene therapy for retinitis pigmentosa and Leber congenital amaurosis caused by defects in AIPL1: effective rescue of mouse models of partial and complete Aipl1 deficiency using AAV2/2 and AAV2/8 vectors. 
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| 2. |
Habbig S et al. (2015) Ciliopathies - from rare inherited cystic kidney diseases to basic cellular function.
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| 3. |
Lee H et al. (2015) Primary cilia in energy balance signaling and metabolic disorder.
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| 4. |
Megaw RD et al. (2015) RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
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| 5. |
Falk N et al. (2015) Specialized Cilia in Mammalian Sensory Systems.
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| 6. |
Brown JM et al. (2014) Cilia and Diseases.
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| 7. |
Praveen K et al. (2015) Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.
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| 8. |
Szymanska K et al. (2014) Unraveling the genetics of Joubert and Meckel-Gruber syndromes.
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| 9. |
Orphanet article Orphanet ID 363250
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| 10. |
Wikipedia article Wikipedia EN (Ciliopathy)
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