Ontology highlight
ABSTRACT:
SUBMITTER: Schmidts M
PROVIDER: S-EPMC4468853 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Nature communications 20150605
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms controlling ciliogenesis and cell signalling that are essential to embryonic development and survival. Here we identify TCTEX1D2 mutations causing Jeune asphyxiating thoracic dystrophy with partially penetrant inheritance. Loss of TCTEX1D2 impairs retrograde intraflagellar transport (IFT) in humans and the protist Chlamydomonas, accompanied by destabilization of the retrograde IFT dynein motor. We t ...[more]