Article
Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease.
PLoS genetics - 1 Jul 2016
Lewis Wesley R, Malarkey Erik B, Tritschler Douglas, Bower Raqual, Pasek Raymond C, Porath Jonathan D, Birket Susan E, Saunier Sophie, Antignac Corinne, Knowles Michael R, Leigh Margaret W, Zariwala Maimoona A, Challa Anil K, Kesterson Robert A, Rowe Steven M, Drummond Iain A, Parant John M, Hildebrandt Friedhelm, Porter Mary E, Yoder Bradley K, Berbari Nicolas F
Abstract excerpt
Ciliopathies are genetic disorders arising from dysfunction of microtubule-based cellular appendages called cilia. Different cilia types possess distinct stereotypic microtubule doublet arrangements with non-motile or 'primary' cilia having a 9+0 and motile cilia have a 9+2 array of microtubule doublets. Primary cilia are critical sensory and signaling centers needed for normal mammalian development. Defects in...
Topics
- Animals
- Body Patterning
- Cell Movement
- Chlamydomonas
- Cilia
- Cytoskeletal Proteins
- Cytoskeleton
- Disease Models, Animal
- Extremities