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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) 
2022-08-12 | PXD034412 | Pride
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
CRISPR/Cas9-mediated gene-editing allows manipulation of a gene of interest in its own chromosomal context. When applied to the analysis of protein interaction, and in contrast to an exogenous expression of a protein, these can be studied maintaining physiological stochiometries, topology and contex...
ORGANISM(S): Homo sapiens (Human) 
2018-04-04 | PXD008343 | Pride
Protein-protein interaction analysis is an important tool to elucidate the function of proteins and protein complexes as well as their dynamic behavior. Despite the large toolset available to date the analysis of tissue specific complexes is still relying on the availability of specific antibodies s...
ORGANISM(S): Sus scrofa domesticus (domestic pig) 
2023-12-28 | PXD018047 | Pride
Protein-protein interaction analysis is an important tool to elucidate the function of proteins and protein complexes as well as their dynamic behavior. To date, the analysis of tissue- or even cell- or compartment-specific protein interactions is still relying on the availability of specific antibo...
ORGANISM(S): Sus scrofa domesticus (domestic pig) 
2023-12-28 | PXD020379 | Pride
The deposition of circulating complement factor H-related (FHR) proteins in tissues around the body has been implicated in a series of complement-mediated diseases. However, the array of blood-borne binding partners with which they interact remains unclear. Here, we identify novel blood-borne bindin...
ORGANISM(S): Homo sapiens (Human) 
2026-03-30 | PXD072296 | Pride
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
Alström syndrome (ALMS) is a very rare autosomal-recessive disorder, causing a broad range of clinical defects most notably retinal degeneration, type 2 diabetes and truncal obesity. The ALMS1 gene codes for a ~0.5 MDa protein, which has hampered analysis in the past. Interestingly, ALMS1 has been s...
ORGANISM(S): Homo sapiens (Human) 
2024-01-25 | PXD046401 | Pride
Dietary restriction (DR) is the best-characterized intervention for slowing aging, and reduced signaling through the target of rapamycin (TOR) kinase is believed to be one of the key mechanisms by which DR extends life span in organisms from yeast to mammals. Here we describe a role for nuclear seq...
ORGANISM(S): Saccharomyces cerevisiae 
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