ArticleNature communications2020
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
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Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
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45 citing papers in PubMed.
- AK8 deficiency causes primary ciliary dyskinesia by disrupting energy homeostasis in the airways.American journal of respiratory and critical care medicine · 2026Article
- Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study.International journal of reproductive biomedicine · 2026Article
- Mechanisms Underlying Male Reproductive Toxicity Induced by Sublethal β-Cypermethrin Exposure inInsects · 2026Article
- Proteomic Identification of Small-Subunit Ribosome Assembly Factors inJournal of proteome research · 2026Article
- Jejunal and pancreatic transcriptomic adaptations underpin enhanced performance in broilers fed sugarcane bagasse-supplemented diets.BMC genomics · 2026Article
- A high-resolution spatial map of cilia-associated proteins in the human fallopian tube.Nature communications · 2026Article
- Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.Brain structure & function · 2026Article
- Ccdc57 regulates cilia and left-right patterning in Xenopus.Biology open · 2026Article
- Broadening horizons: new links between cilia and heart development and disease.Frontiers in cardiovascular medicine · 2026Review
- CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice.International journal of biological sciences · 2026Article
- Prognostic risk model based on cholesterol metabolism-Associated gene module for idiopathic pulmonary fibrosis.PloS one · 2026Article
- NSUN7 is a catalytically inactive RNA mNature communications · 2025Article
- Brief biology and pathophysiology of Tekt bundles.Cell adhesion & migration · 2025Review
- EFCAB10 anchors AK8 to the radial spoke for proper ciliary motility.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- L-Proline supplementation preserves sperm function and chromatin integrity in asthenozoospermic patients during cryopreservation.Basic and clinical andrology · 2025Article
- An amino acid-resolution interactome for motile cilia identifies the structure and function of ciliopathy protein complexes.Developmental cell · 2025Article
- Diagnostic Role of Immunofluorescence Analysis in Primary Ciliary Dyskinesia-Suspected Individuals.Journal of clinical medicine · 2025Article
- A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families.Asian journal of andrology · 2025Article
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search.Human genetics · 2025Article
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Authors and funding
51 authors.
Gerard W DoughertyDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Katsutoshi MizunoRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.ORCID 0000-0002-9584-3953
Tabea Nöthe-MenchenDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Yayoi IkawaRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.
Karsten BoldtInstitute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany.ORCID 0000-0002-2693-689X
Asaf Ta-ShmaDepartment of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.ORCID 0000-0003-0076-9568
Isabella ApreaDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Katsura MinegishiRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.
Yuan-Ping PangDepartment of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA.ORCID 0000-0003-0838-2560
Petra PennekampDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Niki T LogesDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Johanna RaidtDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Rim HjeijDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Julia WallmeierDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Huda MussaffiSchneider Children's Medical Center, Prtach-Tiqva, Israel.
Zeev PerlesDepartment of Pediatric Cardiology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Orly ElpelegDepartment of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Franziska RabertMax Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine, Münster, Germany.
Hidetaka ShiratoriDevelopmental Genetics Group, Graduate School of Frontier Biosciences, Osaka University, Osaka, Japan.
Stef J LetteboerDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Nicola HornInstitute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany.
Samuel YoungCentre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany.ORCID 0000-0002-0950-4112
Timo StrünkerCentre of Reproductive Medicine and Andrology, University Hospital Münster, University of Münster, Münster, Germany.
Friederike StummeDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Claudius WernerDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Heike OlbrichDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Katsuyoshi TakaokaRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.
Takahiro IdeRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.
Wang Kyaw TwanRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.
Luisa BiebachDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Jörg Große-OnnebrinkDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Judith A KlinkenbuschDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Kavita PraveenCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Diana C BrachtDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Inga M HöbenDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Katrin JungerInstitute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany.
Jana GützlaffDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Sandra CindrićDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.ORCID 0000-0002-8303-100X
Micha AviramSoroka Medical Center, Beer-Sheva, Israel.
Thomas KaiserDepartment of General Pediatrics, University Hospital Münster, Münster, Germany.
Yasin MemariDepartment of Medical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Petras P DzejaDepartment of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.
Bernd DworniczakDepartment of Human Genetics, University of Münster, Münster, Germany.
Marius UeffingInstitute for Ophthalmic Research, Molecular Biology of Retinal Degenerations and Medical Bioanalytics, University of Tübingen, Tübingen, Germany.
Ronald RoepmanDepartment of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
Kerstin BartschererMax Planck Research Group on Stem Cells & Regeneration, Max Planck Institute for Molecular Biomedicine, Münster, Germany.
Nicholas KatsanisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.
Erica E DavisCenter for Human Disease Modeling, Duke University Medical Center, Durham, NC, USA.ORCID 0000-0002-2412-8397
Israel AmiravPulmonology Unit, Dana-Dwek Children's Hospital, Tel-Aviv University, Tel-Aviv, Israel.ORCID 0000-0002-6917-5285
Hiroshi HamadaRIKEN Center for Biosystems Dynamics Research, Kobe, Japan.
Heymut OmranDepartment of General Pediatrics, University Hospital Münster, Münster, Germany. Heymut.Omran@ukmuenster.de.ORCID 0000-0003-0282-6765
Funding
Genetic and Functional Studies of Human Ciliary SyndromesR01DK072301 · NIDDK · LURIE CHILDREN'S HOSPITAL OF CHICAGO · PI DAVIS, ERICA ELLEN · 2005 to 2022
$7.2MNIDDK NIH HHS R01 DK072301
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 and AK8. Microtubule sliding of dyskinetic sperm from Cfap45
Indexed as
Adenine NucleotidesAdolescentAdultAnimalsAsthenozoospermiaAxonemeCiliaCRISPR-Cas SystemsCytoskeletal ProteinsDisease Models, AnimalDNA Mutational AnalysisEpididymisExome SequencingFemaleFlagellaHumansAdenine NucleotidesCFAP45 protein, humanCytoskeletal Proteins
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