{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T16:08:25Z","timestamp":1782403705635,"version":"3.54.5"},"reference-count":69,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T00:00:00Z","timestamp":1671667200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["CF-2019\/2472263"],"award-info":[{"award-number":["CF-2019\/2472263"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["CB-2015-258268-B"],"award-info":[{"award-number":["CB-2015-258268-B"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by cerebellar ataxia and retinopathy. SCA7 is caused by a CAG expansion in the ATXN7 gene, which results in an extended polyglutamine (polyQ) tract in the encoded protein, the ataxin-7. PolyQ expanded ataxin-7 elicits neurodegeneration in cerebellar Purkinje cells, however, its impact on the SCA7-associated retinopathy remains to be addressed. Since M\u00fcller glial cells play an essential role in retinal homeostasis, we generate an inducible model for SCA7, based on the glial M\u00fcller MIO-M1 cell line. The SCA7 pathogenesis has been explained by a protein gain-of-function mechanism, however, the contribution of the mutant RNA to the disease cannot be excluded. In this direction, we found nuclear and cytoplasmic foci containing mutant RNA accompanied by subtle alternative splicing defects in MIO-M1 cells. RNA foci were also observed in cells from different lineages, including peripheral mononuclear leukocytes derived from SCA7 patient, suggesting that this molecular mark could be used as a blood biomarker for SCA7. Collectively, our data showed that our glial cell model exhibits the molecular features of SCA7, which makes it a suitable model to study the RNA toxicity mechanisms, as well as to explore therapeutic strategies aiming to alleviate glial dysfunction.<\/jats:p>","DOI":"10.3390\/life13010023","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T02:59:06Z","timestamp":1671677946000},"page":"23","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["RNA Foci Formation in a Retinal Glial Model for Spinocerebellar Ataxia Type 7"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5269-7124","authenticated-orcid":false,"given":"Roc\u00edo","family":"Su\u00e1rez-S\u00e1nchez","sequence":"first","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis, Guillermo Ibarra Ibarra, Ciudad de M\u00e9xico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0683-073X","authenticated-orcid":false,"given":"Rodolfo Daniel","family":"\u00c1vila-Avil\u00e9s","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7624-9986","authenticated-orcid":false,"given":"J. Manuel","family":"Hern\u00e1ndez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"S\u00e1nchez-Celis","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cuauhtli N.","family":"Azotla-Vilchis","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enue R.","family":"G\u00f3mez-Mac\u00edas","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norberto","family":"Leyva-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis, Guillermo Ibarra Ibarra, Ciudad de M\u00e9xico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9594-8114","authenticated-orcid":false,"given":"Arturo","family":"Ortega","sequence":"additional","affiliation":[{"name":"Departamento de Toxicolog\u00eda, Centro de Investigaci\u00f3n y de Estudios Avanzados del, Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4399-4618","authenticated-orcid":false,"given":"Jonathan J.","family":"Maga\u00f1a","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis, Guillermo Ibarra Ibarra, Ciudad de M\u00e9xico 14389, Mexico"},{"name":"Escuela de Ingenier\u00eda y Ciencias, Departamento de Bioingenier\u00eda, Tecnol\u00f3gico de Monterrey-Campus Ciudad de M\u00e9xico, Ciudad de M\u00e9xico 14380, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bulmaro","family":"Cisneros","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica y Biolog\u00eda Molecular, Centro de Investigaci\u00f3n y de Estudios Avanzados del Instituto Polit\u00e9cnico Nacional, Ciudad de M\u00e9xico 07360, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6388-2459","authenticated-orcid":false,"given":"Oscar","family":"Hern\u00e1ndez-Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Laboratorio de Medicina Gen\u00f3mica, Departamento de Gen\u00e9tica, Instituto Nacional de Rehabilitaci\u00f3n-Luis, Guillermo Ibarra Ibarra, Ciudad de M\u00e9xico 14389, Mexico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1093\/brain\/117.3.445","article-title":"Autosomal dominant cerebellar ataxia with pigmentary macular dystrophy. 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