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ProteomicsParalogue specific TTC30A knockout downregulates Sonic hedgehog signaling
Cilia assembly, maintenance and the localization of signal-transduction proteins necessitate a functioning intraflagellar transport (IFT). The IFT machinery moves cargo along a microtubule scaffold from the proximal to the distal end of the cilium. This anterograde transport is facilitated by a larg...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD044183 | Pride
Ttc30 paralogues Sonic hedgehog signaling Affinity proteomics Ift Pka Cilia 
ProteomicsTTC30A and TTC30B redundancy protects IFT complex B integrity and its pivotal role in ciliogenesis
Intraflagellar transport (IFT) is a microtubule-based system that supports the assembly and maintenance of cilia, an essential organelle for development and maintenance of cellular integrity. Dysfunction of IFT was shown to lead to a wide spectrum of disease phenotypes, so called ciliopathies of var...
ORGANISM(S): Homo sapiens (Human) 
2023-12-28 | PXD033614 | Pride
Ift Cilia 
ProteomicsCiliopathy-associated missense mutations in IFT140 are hypomorphic and have edgetic effects on protein interaction networks
The mechanisms underlying recessive Mendelian diseases and the interplay between genotype and phenotype still need to be better understood. It is therefore necessary to characterise the functional effects of missense mutations at the protein level. Here we focus on missense mutations in the intrafla...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD044186 | Pride
Cilia Intraflagellar transport Protein interaction Ciliopathy Hypomorph Missense mutation Edgetic 
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