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Autosomal dominant spinocerebellar ataxia type 48 (SCA48) is a newly identified subtype of SCA, marked by early-onset ataxia and cognitive impairment, and is associated with mutations in the\n                      <jats:italic>STIP1 homology and U-box-containing protein 1<\/jats:italic>\n                      (\n                      <jats:italic>STUB1)<\/jats:italic>\n                      gene. The\n                      <jats:italic>STUB1<\/jats:italic>\n                      gene encodes the protein CHIP (C-terminus of HSC70-interacting protein) which functions as E3 ubiquitin ligase and is crucial to the development of neural systems.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Here, we reported a Chinese SCA48 family exhibited typical features and defined a novel missense mutation\n                      <jats:italic>STUB1<\/jats:italic>\n                      c.755A&gt;C (CHIP p. Y252S) through whole-exome sequencing. The variant was interpreted as a variant of uncertain significance, so we conducted a series of experiments using minigene plasmids to evaluate the pathogenicity of the variant. We found that the variant\n                      <jats:italic>STUB1<\/jats:italic>\n                      c.755A&gt;C caused a significant reduction of CHIP level and the loss function of ubiquitin ligase activity as the pathogenic\n                      <jats:italic>STUB1<\/jats:italic>\n                      mutations reported before. Besides, we also found that the CHIP p. Y252S could cause tau aggregation, which is considered to contribute to the progression of neurodegenerative disorders.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We diagnose the SCA48 pedigree in China and highlight the role of decreased ubiquitination and increased tau aggregation in the pathogenesis of the novel\n                      <jats:italic>STUB1<\/jats:italic>\n                      c.755C&gt;A mutation.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-024-03456-8","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T07:37:51Z","timestamp":1734680271000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and functional characterization of a novel STUB1 mutation in a Chinese spinocerebellar ataxia 48 pedigree"],"prefix":"10.1186","volume":"19","author":[{"given":"Jiaqi","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenyi","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian-Min","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chun-Zuan","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya-Li","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang-Yun","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Qian","family":"Lu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8277-1110","authenticated-orcid":false,"given":"Zhang-Yu","family":"Zou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"3456_CR1","doi-asserted-by":"publisher","first-page":"924","DOI":"10.1002\/ana.410420615","volume":"42","author":"L Sch\u00f6ls","year":"1997","unstructured":"Sch\u00f6ls L, Amoiridis G, B\u00fcttner T, Przuntek H, Epplen JT, Riess O. 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