{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Power KM"],"funding":["NIDDK NIH HHS","NHGRI NIH HHS","National Institutes of Health","NIH HHS","NIGMS NIH HHS","New Jersey Commission on Spinal Cord Research"],"pagination":["e1009052"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7592914"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(10)"],"pubmed_abstract":["Ciliary microtubules are subject to post-translational modifications that act as a \"Tubulin Code\" to regulate motor traffic, binding proteins and stability. In humans, loss of CCP1, a cytosolic carboxypeptidase and tubulin deglutamylating enzyme, causes infantile-onset neurodegeneration. In C. elegans, mutations in ccpp-1, the homolog of CCP1, result in progressive degeneration of neuronal cilia and loss of neuronal function. To identify genes that regulate microtubule glutamylation and ciliary integrity, we performed a forward genetic screen for suppressors of ciliary degeneration in ccpp-1 mutants. We isolated the ttll-5(my38) suppressor, a mutation in a tubulin tyrosine ligase-like glutamylase gene. We show that mutation in the ttll-4, ttll-5, or ttll-11 gene suppressed the hyperglutamy"],"journal":["PLoS genetics"],"pubmed_title":["Mutation of NEKL-4/NEK10 and TTLL genes suppress neuronal ciliary degeneration caused by loss of CCPP-1 deglutamylase function."],"pmcid":["PMC7592914"],"funding_grant_id":["DK116606","K12 GM093854","CSCR15IRG014","R24 OD010943","R01 DK116606","P40 OD010440","U41 HG002223"],"pubmed_authors":["Bellotti S","Golden A","Gu A","Morash M","Zhang W","Walsh JD","Smith HE","Ross N","O'Hagan R","Power KM","Barr MM","Akella JS","Ramadan YH"],"additional_accession":[]},"is_claimable":false,"name":"Mutation of NEKL-4/NEK10 and TTLL genes suppress neuronal ciliary degeneration caused by loss of CCPP-1 deglutamylase function.","description":"Ciliary microtubules are subject to post-translational modifications that act as a \"Tubulin Code\" to regulate motor traffic, binding proteins and stability. In humans, loss of CCP1, a cytosolic carboxypeptidase and tubulin deglutamylating enzyme, causes infantile-onset neurodegeneration. In C. elegans, mutations in ccpp-1, the homolog of CCP1, result in progressive degeneration of neuronal cilia and loss of neuronal function. To identify genes that regulate microtubule glutamylation and ciliary integrity, we performed a forward genetic screen for suppressors of ciliary degeneration in ccpp-1 mutants. We isolated the ttll-5(my38) suppressor, a mutation in a tubulin tyrosine ligase-like glutamylase gene. We show that mutation in the ttll-4, ttll-5, or ttll-11 gene suppressed the hyperglutamy","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Oct","modification":"2025-06-01T03:53:06.209Z","creation":"2020-11-08T09:44:40Z"},"accession":"S-EPMC7592914","cross_references":{"pubmed":["33064774"],"doi":["10.1371/journal.pgen.1009052"]}}