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CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module
http://hdl.handle.net/10098/00029239
http://hdl.handle.net/10098/0002923981d2309a-db5e-4b80-9fba-e8fbd37a5737
| 名前 / ファイル | ライセンス | アクション |
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BD10126417 (6.6 MB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2022-08-26 | |||||
| タイトル | ||||||
| タイトル | CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module | |||||
| タイトル | ||||||
| タイトル | CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_1843 | |||||
| 資源タイプ | other | |||||
| 著者 |
Dougherty, Gerard W
× Dougherty, Gerard W× Mizuno, Katsutoshi× Nöthe-Menchen, Tabea× Ikawa, Yayoi× Boldt, Karsten× Ta-Shma, Asaf× Aprea, Isabella× Minegishi, Katsura× Pang, Yuan-Ping× Pennekamp, Petra× Loges, Niki T× Raidt, Johanna× Hjeij, Rim× Wallmeier, Julia× Mussaffi, Huda× Perles, Zeev× Elpeleg, Orly× Rabert, Franziska× Shiratori, Hidetaka× Letteboer, Stef J× Horn, Nicola× Young, Samuel× Strünker, Timo× Stumme, Friederike× Werner, Claudius× Olbrich, Heike× Takaoka, Katsuyoshi× Ide, Takahiro× Twan, Wang Kyaw× Biebach, Luisa× Große-Onnebrink, Jörg× Klinkenbusch, Judith A× Praveen, Kavita× Bracht, Diana C× Höben, Inga M× Junger, Katrin× Gützlaff, Jana× Cindrić, Sandra× Aviram, Micha× Kaiser, Thomas× Memari, Yasin× Dzeja, Petras P× Dworniczak, Bernd× Ueffing, Marius× Roepman, Ronald× Bartscherer, Kerstin× Katsanis, Nicholas× Davis, Erica E× Amirav, Israel× Hamada, Hiroshi× Omran, Heymut |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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−/− mice is rescued with the addition of either AMP or ADP with ATP, compared to ATP alone. We propose that CFAP45 supports mammalian ciliary and flagellar beating via an adenine nucleotide homeostasis module. | |||||
| 書誌情報 |
en : nature communications 巻 11, 号 5520, p. 1-20, 発行日 2020-11-02 |
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| 出版者 | ||||||
| 出版者 | Springer Mature | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 2041-1723 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1038/s41467-020-19113-0 | |||||
| 権利 | ||||||
| 権利情報 | cc-by 4.0 | |||||
| 関連サイト | ||||||
| 識別子タイプ | URI | |||||
| 関連識別子 | https://www.nature.com/articles/s41467-020-19113-0#rightslink | |||||
| 関連名称 | Nature Portfolio | |||||
| 著者版フラグ | ||||||
| 出版タイプ | AO | |||||
| 出版タイプResource | http://purl.org/coar/version/c_b1a7d7d4d402bcce | |||||
| その他のID | ||||||
| 値 | TD10126417 | |||||
