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 thus define TCTEX1D2 as an integral component of the evolutionarily conserved retrograde IFT machinery. In complex with several IFT dynein light chains, it is required for correct vertebrate skeletal formation but may be functionally redundant under c...
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characte...
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thorac...
Contains fulltext : 154929.pdf (publisher's version ) (Open Access)Skeletal ciliop...
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms co...
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms co...
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo ...
<p>Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intra...
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucocili...
Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intrafla...
Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) mac...
Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defec...
Cytoplasmic dynein-2 is the motor for retrograde intraflagellar transport and mutations in dynein-2 ...
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use af...
Primary cilia are antenna-like organelles that contain specific proteins, and are crucial for tissue...
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characte...
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thorac...
Contains fulltext : 154929.pdf (publisher's version ) (Open Access)Skeletal ciliop...
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms co...
The analysis of individuals with ciliary chondrodysplasias can shed light on sensitive mechanisms co...
Bidirectional (anterograde and retrograde) motor-based intraflagellar transport (IFT) governs cargo ...
<p>Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intra...
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucocili...
Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intrafla...
Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) mac...
Ciliopathies are a large group of clinically and genetically heterogeneous disorders caused by defec...
Cytoplasmic dynein-2 is the motor for retrograde intraflagellar transport and mutations in dynein-2 ...
Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use af...
Primary cilia are antenna-like organelles that contain specific proteins, and are crucial for tissue...
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characte...
Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thorac...
Contains fulltext : 154929.pdf (publisher's version ) (Open Access)Skeletal ciliop...