{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:12:00Z","timestamp":1787242320976,"version":"build-2736575974"},"reference-count":39,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,4]],"date-time":"2023-01-04T00:00:00Z","timestamp":1672790400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004281","name":"NCN (Narodowe Centrum Bada\u0144, Poland)","doi-asserted-by":"publisher","award":["2015\/19\/B\/NZ5\/03469"],"award-info":[{"award-number":["2015\/19\/B\/NZ5\/03469"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"name":"University of Zielona G\u00f3ra, Poland","award":["2015\/19\/B\/NZ5\/03469"],"award-info":[{"award-number":["2015\/19\/B\/NZ5\/03469"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Previously, we reported a new missense mutation in the ANK1 gene that correlated with the hereditary spherocytosis phenotype. This mutation, resulting in L1340P substitution (HGMD CM149731), likely leads to the changes in the conformation of the ankyrin ZZUD domain important for ankyrin binding to spectrin. Here, we report the molecular and physiological effects of this mutation. First, we assessed the binding activity of human \u03b2-spectrin to the mutated ZZUDL1340P domain of ankyrin using two different experimental approaches\u2014the study of association and dissociation responses of the spectrin\u2013ankyrin binding domain and a sedimentation assay. In addition, we documented the changes in morphology caused by the overexpressed ankyrin ZZUD domain in human cell models. Our results prove the key role of the L1340 aa residue for the correct alignment of the ZZUD domain of ankyrin, which results in binding the latter with spectrin within the erythrocyte membrane. Replacing L1340 with a proline residue disrupts the spectrin-binding activity of ankyrin.<\/jats:p>","DOI":"10.3390\/life13010151","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T01:33:30Z","timestamp":1672882410000},"page":"151","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Spherocytosis-Related L1340P Mutation in Ankyrin Affects Its Interactions with Spectrin"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-8252","authenticated-orcid":false,"given":"Beata","family":"Machnicka","sequence":"first","affiliation":[{"name":"Department of Biotechnology, Institute of Biological Sciences, University of Zielona G\u00f3ra, 1 Prof. Z. Szafrana St., 65-516 Zielona G\u00f3ra, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3035-059X","authenticated-orcid":false,"given":"Aleksander","family":"Czogalla","sequence":"additional","affiliation":[{"name":"Department of Cytobiochemistry, Faculty of Biotechnology, University of Wroc\u0142aw, 14a F. Joliot-Curie St., 50-383 Wroc\u0142aw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9270-7510","authenticated-orcid":false,"given":"D\u017camila M.","family":"Bogus\u0142awska","sequence":"additional","affiliation":[{"name":"Department of Biotechnology, Institute of Biological Sciences, University of Zielona G\u00f3ra, 1 Prof. Z. Szafrana St., 65-516 Zielona G\u00f3ra, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piotr","family":"Stasiak","sequence":"additional","affiliation":[{"name":"Department of Anatomy and Histology, Collegium Medicum, University of Zielona G\u00f3ra, 28 Zyty St., 65-046 Zielona Gora, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksander F.","family":"Sikorski","sequence":"additional","affiliation":[{"name":"Research and Development Centre, Regional Specialist Hospital, 73a Kamie\u0144skiego St., 51-154 Wroc\u0142aw, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/ijlh.12657","article-title":"Red cell membrane disorders","volume":"39","author":"Narla","year":"2017","journal-title":"Int. J. Lab. 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