| http://purl.uniprot.org/citations/32453716 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32453716 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32453716 | http://www.w3.org/2000/01/rdf-schema#comment | "Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we used the recently identified JBTS-associated protein armadillo repeat motif-containing 9 (ARMC9) in tandem-affinity purification and yeast 2-hybrid screens to identify a ciliary module whose dysfunction underlies JBTS. In addition to the known JBTS-associated proteins CEP104 and CSPP1, we identified coiled-coil domain containing 66 (CCDC66) and TOG array regulator of axonemal microtubules 1 (TOGARAM1) as ARMC9 interaction partners. We found that TOGARAM1 variants cause JBTS and disrupt TOGARAM1 interaction with ARMC9. Using a combination of protein interaction analyses, characterization of patient-derived fibroblasts, and analysis of CRISPR/Cas9-engineered zebrafish and hTERT-RPE1 cells, we demonstrated that dysfunction of ARMC9 or TOGARAM1 resulted in short cilia with decreased axonemal acetylation and polyglutamylation, but relatively intact transition zone function. Aberrant serum-induced ciliary resorption and cold-induced depolymerization in ARMC9 and TOGARAM1 patient cell lines suggest a role for this new JBTS-associated protein module in ciliary stability."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci131656"xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci131656"xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Boldt K."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Boldt K."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Bamshad M.J."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Bamshad M.J."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Nickerson D.A."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Nickerson D.A."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Asadollahi M."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Asadollahi M."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Shaheen R."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Shaheen R."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Sayer J.A."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Sayer J.A."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Gomez A."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Gomez A."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Gesemann M."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Gesemann M."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Roepman R."xsd:string |
| http://purl.uniprot.org/citations/32453716 | http://purl.uniprot.org/core/author | "Roepman R."xsd:string |