Article detail · 2015 · article
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
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- YÖKSİSYÖKSİS article record
- YÖKSİS venueNATURE COMMUNICATIONS
- Catalog match (ISSN)Nature Communications
- OpenAlexOpenAlex enrichment (abstract, citations, topics)
Abstract
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 certain conditions.
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Citations
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85citationsOpenAlex · cited_by_count (cache / database)
3 publications in the local catalog that cite this work (OpenAlex reference match; not the full global list).
- 2022 Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportCitations 2 · OpenAlex
- 2022 Base editing derived models of human WDR34 and WDR60 disease alleles replicate retrograde IFT and hedgehog signaling defects and suggest disturbed Golgi protein transportCitations 1 · OpenAlex
- 2026 Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defectsCitations 0 · OpenAlex