{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T20:49:14Z","timestamp":1786135754790,"version":"build-2736575974"},"reference-count":65,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"11","funder":[{"DOI":"10.13039\/100001463","name":"American Society of Nephrology","doi-asserted-by":"publisher","award":["predoctoral fellowship"],"award-info":[{"award-number":["predoctoral fellowship"]}],"id":[{"id":"10.13039\/100001463","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000968","name":"American Heart Association","doi-asserted-by":"publisher","award":["14PRE20380534"],"award-info":[{"award-number":["14PRE20380534"]}],"id":[{"id":"10.13039\/100000968","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","award":["5R01DK076683"],"award-info":[{"award-number":["5R01DK076683"]}],"id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":["JASN"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Myo1e is a nonmuscle motor protein enriched in podocytes. Mutations in\n                      <jats:italic toggle=\"yes\">MYO1E<\/jats:italic>\n                      are associated with steroid-resistant nephrotic syndrome (SRNS). Most of the\n                      <jats:italic toggle=\"yes\">MYO1E<\/jats:italic>\n                      variants identified by genomic sequencing have not been functionally characterized. Here, we set out to analyze two mutations in the Myo1e motor domain, T119I and D388H, which were selected on the basis of protein sequence conservation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      EGFP-tagged human\n                      <jats:italic toggle=\"yes\">Myo1e<\/jats:italic>\n                      constructs were delivered into the Myo1e-KO mouse podocyte\u2013derived cells\n                      <jats:italic toggle=\"yes\">via<\/jats:italic>\n                      adenoviral infection to analyze Myo1e protein stability, Myo1e localization, and clathrin-dependent endocytosis, which is known to involve Myo1e activity. Furthermore, truncated\n                      <jats:italic toggle=\"yes\">Myo1e<\/jats:italic>\n                      constructs were expressed using the baculovirus expression system and used to measure Myo1e ATPase and motor activity\n                      <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Both mutants were expressed as full-length proteins in the Myo1e-KO cells. However, unlike wild-type (WT) Myo1e, the T119I variant was not enriched at the cell junctions or clathrin-coated vesicles (CCVs). In contrast, D388H variant localization was similar to that of WT. The rate of dissociation of the D388H variant from cell-cell junctions and CCVs was decreased, suggesting this mutation affects Myo1e interactions with binding partners. ATPase activity and ability to translocate actin filaments were drastically reduced for the D388H mutant, supporting findings from cell-based experiments.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      T119I and D388H mutations are deleterious to Myo1e functions. The experimental approaches used in this study can be applied to future characterization of novel\n                      <jats:italic toggle=\"yes\">MYO1E<\/jats:italic>\n                      variants associated with SRNS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1681\/asn.2021111505","type":"journal-article","created":{"date-parts":[[2022,9,9]],"date-time":"2022-09-09T13:20:39Z","timestamp":1662729639000},"page":"1989-2007","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":4,"title":["Steroid-Resistant Nephrotic Syndrome\u2013Associated MYO1E Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity"],"prefix":"10.1681","volume":"33","author":[{"given":"Pei-Ju","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura K.","family":"Gunther","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Physiology, College of Medicine, Pennsylvania State University, Hershey, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Garone","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunling","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Physiology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Perez","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Bi-Karchin","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher D.","family":"Pellenz","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon E.","family":"Chase","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria F.","family":"Presti","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric L.","family":"Plante","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York Upstate Medical University, Syracuse, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8346-414X","authenticated-orcid":false,"given":"Claire E.","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Molecular and Cellular Biology, University of Guelph, Guelph, Ontario, Canada"},{"name":"Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Sinai Health System, Toronto, Ontario, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svjetlana","family":"Lovric","sequence":"additional","affiliation":[{"name":"Divison of Nephrology, Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher M.","family":"Yengo","sequence":"additional","affiliation":[{"name":"Department of Cellular and Molecular Physiology, College of Medicine, Pennsylvania State University, Hershey, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7130-0030","authenticated-orcid":false,"given":"Friedhelm","family":"Hildebrandt","sequence":"additional","affiliation":[{"name":"Divison of Nephrology, Department of Pediatrics, Boston Children\u2019s Hospital, Harvard Medical School, Boston, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7008-9069","authenticated-orcid":false,"given":"Mira","family":"Krendel","sequence":"additional","affiliation":[{"name":"Department of Cell and Developmental Biology, State University of New York 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