TALPID3 in Joubert Syndrome and related ciliopathy disorders

Amy Fraser, Megan Davey

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

TALPID3 (KIAA0586) is a centrosomal, protein which has specific functions during centriole maturation during the formation of the centrosomal dependent organelle, the cilia, as well as less well understood roles in the cytoskeleton and during cell polarisation. Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause both severe lethal and mild cilia-related developmental disorders known as ‘ciliopathies’ the most common being Joubert syndrome. TALPID3 related ciliopathies affect the development of multiple organ systems including the brain, skeleton, eyes, lungs and liver. The consequences of TALPID3 dysfunction outside of the cilia and the implications for human diseases, is less well understood.
Original languageEnglish
JournalCurrent Opinion in Genetics and Development
Early online date19 Jul 2019
Publication statusE-pub ahead of print - 19 Jul 2019


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