{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Dougherty GW"],"funding":["NIDDK NIH HHS","ZonMw"],"pagination":["5520"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7606486"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia. CFAP45-deficient cilia and flagella show normal morphology and axonemal ultrastructure. Proteomic profiling links CFAP45 to an axonemal module including dynein ATPases and adenylate kinase as well as CFAP52, whose mutations cause a similar ciliopathy. CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45"],"journal":["Nature communications"],"pubmed_title":["CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module."],"pmcid":["PMC7606486"],"funding_grant_id":["R01 DK072301","13417760","91216051"],"pubmed_authors":["Ide T","Raidt J","Minegishi K","Dougherty GW","Katsanis N","Dzeja PP","Davis EE","Werner C","Junger K","Kaiser T","Ta-Shma A","Ikawa Y","Perles Z","Klinkenbusch JA","Young S","Letteboer SJ","Stumme F","Boldt K","Mussaffi H","Große-Onnebrink J","Horn N","Dworniczak B","Aprea I","Twan WK","Bracht DC","Gutzlaff J","Hamada H","Amirav I","Pennekamp P","Omran H","Ueffing M","Cindric S","Shiratori H","Pang YP","Mizuno K","Loges NT","Memari Y","Elpeleg O","Hoben IM","Rabert F","Roepman R","Hjeij R","Olbrich H","Takaoka K","Strunker T","Biebach L","Aviram M","Wallmeier J","Bartscherer K","Praveen K","Nothe-Menchen T"],"additional_accession":[]},"is_claimable":false,"name":"CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.","description":"Axonemal dynein ATPases direct ciliary and flagellar beating via adenosine triphosphate (ATP) hydrolysis. The modulatory effect of adenosine monophosphate (AMP) and adenosine diphosphate (ADP) on flagellar beating is not fully understood. Here, we describe a deficiency of cilia and flagella associated protein 45 (CFAP45) in humans and mice that presents a motile ciliopathy featuring situs inversus totalis and asthenospermia. CFAP45-deficient cilia and flagella show normal morphology and axonemal ultrastructure. Proteomic profiling links CFAP45 to an axonemal module including dynein ATPases and adenylate kinase as well as CFAP52, whose mutations cause a similar ciliopathy. CFAP45 binds AMP in vitro, consistent with structural modelling that identifies an AMP-binding interface between CFAP45","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Nov","modification":"2026-05-08T20:14:54.18Z","creation":"2020-11-19T16:57:22Z"},"accession":"S-EPMC7606486","cross_references":{"pubmed":["33139725"],"doi":["10.1038/s41467-020-19113-0"]}}