{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T05:06:37Z","timestamp":1789275997031,"version":"build-2803163510"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T00:00:00Z","timestamp":1699401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100009974","name":"Cardinal Tien Hospital","doi-asserted-by":"publisher","award":["CTH\u2010112A\u20102209"],"award-info":[{"award-number":["CTH\u2010112A\u20102209"]}],"id":[{"id":"10.13039\/501100009974","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cellular Molecular Medi"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Approximately 10%\u201315% of couples worldwide are infertile, and male factors account for approximately half of these cases. Teratozoospermia is a major cause of male infertility. Although various mutations have been identified in teratozoospermia, these can vary among ethnic groups. In this study, we performed whole\u2010exome sequencing to identify genetic changes potentially causative of teratozoospermia. Out of seven genes identified, one,\n                    <jats:italic>ATP\/GTP Binding Protein 1<\/jats:italic>\n                    (\n                    <jats:italic>AGTPBP1<\/jats:italic>\n                    ), was characterized, and three missense changes were identified in two patients (Affected A: p.Glu423Asp and p.Pro631Leu; Affected B: p.Arg811His). In those two cases, severe sperm head and tail defects were observed. Moreover, AGTPBP1 localization showed a fragmented pattern compared to control participants, with specific localization in the neck and annulus regions. Using murine models, we found that AGTPBP1 is localized in the manchette structure, which is essential for sperm structure formation. Additionally, in\n                    <jats:italic>Agtpbp1<\/jats:italic>\n                    \u2010null mice, we observed sperm head and tail defects similar to those in sperm from AGTPBP1\u2010mutated cases, along with abnormal polyglutamylation tubulin and decreasing \u25b3\u22122 tubulin levels. In this study, we established a link between genetic changes in\n                    <jats:italic>AGTPBP1<\/jats:italic>\n                    and human teratozoospermia for the first time and identified the role of AGTPBP1 in deglutamination, which is crucial for sperm formation.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.18031","type":"journal-article","created":{"date-parts":[[2023,11,8]],"date-time":"2023-11-08T07:41:21Z","timestamp":1699429281000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Deleterious genetic changes in\n                    <scp>\n                      <i>AGTPBP1<\/i>\n                    <\/scp>\n                    result in teratozoospermia with sperm head and flagella defects"],"prefix":"10.1111","volume":"28","author":[{"given":"Yu\u2010Hua","family":"Lin","sequence":"first","affiliation":[{"name":"Division of Urology, Department of Surgery Cardinal Tien Hospital  New Taipei Taiwan"},{"name":"Department of Chemistry Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ya\u2010Yun","family":"Wang","sequence":"additional","affiliation":[{"name":"Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsung\u2010Hsuan","family":"Lai","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Cathay General Hospital  Taipei Taiwan"},{"name":"School of Medicine, Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jih\u2010Lung","family":"Teng","sequence":"additional","affiliation":[{"name":"Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chi\u2010Wei","family":"Lin","sequence":"additional","affiliation":[{"name":"Graduate Institute of Biomedical and Pharmaceutical Science, Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chih\u2010Chun","family":"Ke","sequence":"additional","affiliation":[{"name":"Department of Urology En Chu Kong Hospital  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I\u2010Shing","family":"Yu","sequence":"additional","affiliation":[{"name":"Laboratory Animal Center College of Medicine, National Taiwan University  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui\u2010Ling","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Chemistry Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chying\u2010Chyuan","family":"Chan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Taipei City Hospital, Zhongxing Branch and Branch for Women and Children  Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7232-312X","authenticated-orcid":false,"given":"Chi\u2010Hua","family":"Tung","sequence":"additional","affiliation":[{"name":"Program of Artificial Intelligence &amp; Information Security Fu Jen Catholic University  New Taipei City Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald F.","family":"Conrad","sequence":"additional","affiliation":[{"name":"Division of Genetics, Oregon National Primate Research Center  Beaverton Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moira K.","family":"O'Bryan","sequence":"additional","affiliation":[{"name":"School of 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