Article
Ttc30a affects tubulin modifications in a model for ciliary chondrodysplasia with polycystic kidney disease.
Proceedings of the National Academy of Sciences of the United States of America - 28 Sept 2021
Getwan Maike, Hoppmann Anselm, Schlosser Pascal, Grand Kelli, Song Weiting, Diehl Rebecca, Schroda Sophie, Heeg Florian, Deutsch Konstantin, Hildebrandt Friedhelm, Lausch Ekkehart, Köttgen Anna, Lienkamp Soeren S
Abstract excerpt
Skeletal ciliopathies (e.g., Jeune syndrome, short rib polydactyly syndrome, and Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic kidney disease and other organ manifestations. Despite recent progress in genetic mapping of causative loci, a common molecular mechanism of cartilage defects and cystic kidneys has remained elusive. Targeting two ciliary chondrodysplasia loci (ift80...
Topics
- Animals
- Bone and Bones
- Ciliopathies
- Craniosynostoses
- Cytoskeletal Proteins
- Disease Models, Animal
- Ectodermal Dysplasia
- Embryo, Nonmammalian
- Musculoskeletal Abnormalities