Mutations in Kinesin Family Member 6 Reveal Specific Role in Ependymal Cell Function and Human Neuro-Cranial Development
Mia J. Konjikusic, Patra Yeetong, Curtis W. Boswell, Chanjae Lee, Elle C. Roberson, Rungnapa Ittiwut, Kanya Suphapeetiporn, Brian G. Ciruna, Christina A. Gurnett, John B. Wallingford, Vorasuk Shotelersuk, Ryan S. Gray
The paper identifies a homozygous KIF6 mutation in a child with neurocranial defects and intellectual disability, showing its role in ependymal cell cilia maintenance and neuro-cranial development through mouse and zebrafish models.
PLoS Genetics · Nov 26, 2018Peer-reviewedGenetics