{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T02:58:11Z","timestamp":1792897091014,"version":"4.5.0"},"reference-count":31,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,3,1]],"date-time":"2024-03-01T00:00:00Z","timestamp":1709251200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Key R&D Program of Zhejiang","award":["2023C03027"],"award-info":[{"award-number":["2023C03027"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["U20A20351"],"award-info":[{"award-number":["U20A20351"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82200784"],"award-info":[{"award-number":["82200784"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,8,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Fabry disease (FD) is a rare X-linked inherited disease caused by mutations in the galactosidase alpha (GLA) gene. We established a cohort of FD patients and performed whole-exome sequencing to identify some novel mutations.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>The aim of this study is to investigate the etiology of the novel mutation (c.72G &amp;gt; A, p. Trp24*)in the GLA gene in affected patients by using induced pluripotent stem cells (iPSCs) as a valuable tool.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We explored the clinical implications of this proband and examined the deleteriousness and conservation of the mutation site through bioinformatics analysis. Simultaneously, we collected the peripheral blood mononuclear cells of the affected patient, then reprogrammed them into iPSCs and assessed their enzymatic activity to confirm the function of lysosomal enzyme \u03b1-galactosidase A (\u03b1-Gal A).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Clinical examination of the patient demonstrated a classical FD, such as neuropathic pain, gastrointestinal disorders, deficiency of \u03b1-Gal A activity and accumulation of Lyso-Gb-3. The novel mutation located on the N-terminal region, leading to a truncation of the protein and remaining only 24 amino acids. The \u03b1-Gal A activity of the patient-specific iPSC (iPS-FD) was significantly lower (60%) than that of normal iPSCs derived from healthy donors (iPS-B1).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>This work not only elucidated the etiology of novel mutations in affected patients but also highlighted the utility of iPSCs as a valuable tool for clarifying the molecular mechanisms and providing new insights into the therapy of FD.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/qjmed\/hcae038","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T13:52:34Z","timestamp":1709128354000},"page":"566-573","source":"Crossref","is-referenced-by-count":3,"title":["Clinical characteristics and induced pluripotent stem cells (iPSCs) disease model of Fabry disease caused by a novel <i>GLA<\/i> mutation"],"prefix":"10.1093","volume":"117","author":[{"given":"L","family":"Gao","sequence":"first","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, China"},{"name":"The Children's hospital, Zhejiang University School of Medicine , Hangzhou 310058, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Children's hospital, Zhejiang University School of Medicine , Hangzhou 310058, China"},{"name":"Institute of Translational Medicine, Zhejiang University School of Medicine , Hangzhou 310058, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, China"},{"name":"The Children's hospital, Zhejiang University School of Medicine , Hangzhou 310058, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, China"},{"name":"The Children's hospital, Zhejiang University School of Medicine , Hangzhou 310058, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6076-3806","authenticated-orcid":false,"given":"J","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health , Hangzhou, 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