2021
DOI: 10.1007/s00415-020-10348-x
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Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia

Abstract: HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L'archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d'enseignement et de recherche français ou étrangers, des labor… Show more

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Cited by 21 publications
(23 citation statements)
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“…In our cohort, STUB1, a gene originally described in SCAR16 and recently also associated with SCA48 [64], was found to be the most frequent disease-causing gene in HA [61,63], as also confirmed by others [95,96]. We cannot, however, exclude that the relative novelty of this gene might be a source of bias explaining its high rate in our study.…”
Section: Discussionsupporting
confidence: 61%
“…In our cohort, STUB1, a gene originally described in SCAR16 and recently also associated with SCA48 [64], was found to be the most frequent disease-causing gene in HA [61,63], as also confirmed by others [95,96]. We cannot, however, exclude that the relative novelty of this gene might be a source of bias explaining its high rate in our study.…”
Section: Discussionsupporting
confidence: 61%
“…In 2019, heterozygous STUB1 mutations identified in patients with ataxia uncovered a new classification of autosomal dominant spinocerebellar ataxia, SCA48 [94]. To date 19 different CHIP mutations have been identified in SCA48 patients [91,95,96]. SCA48-associated disease mutations are limited to the TPR and U-box domain in CHIP with one exception; a nonsense mutation (p.R225*) at the end of the coiled-coil domain that results in the deletion of the entire U-box domain [91].…”
Section: Spinocerebellar Ataxiasmentioning
confidence: 99%
“…To date, 18 heterozygous pathogenic STUB1 variants have been reported to be associated with a SCA48 phenotype; however, how these mutations affect protein structure and the function remains unclear. Functional data are essential to elucidate mechanisms underlying the dominant inheritance of this disease [ 8 , 9 ].…”
Section: Introductionmentioning
confidence: 99%