dc.creator | Zhao, Xiaonan | es |
dc.creator | Gazy, Inbal | es |
dc.creator | Hayward, Bruce E. | es |
dc.creator | Pintado Sanjuán, Elizabeth | es |
dc.creator | Tassone, Flora | es |
dc.creator | Usdin, Karen | es |
dc.creator | Hwang, Ye Hyun | es |
dc.date.accessioned | 2019-07-09T11:03:00Z | |
dc.date.available | 2019-07-09T11:03:00Z | |
dc.date.issued | 2019-03-01 | |
dc.identifier.citation | Zhao, X., Gazy, I., Hayward, B.E., Pintado Sanjuán, E., Tassone, F., Usdin, K. y Hwang, Y.H. (2019). Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model. Brain Sciences, 9 (3), 52-1-52-15. | |
dc.identifier.issn | 2076-3425 | es |
dc.identifier.uri | https://hdl.handle.net/11441/87957 | |
dc.description.abstract | The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the FMR1 gene. Mouse models are proving useful for understanding many aspects of disease pathology in these disorders. There is also reason to think that such models may be useful for understanding the molecular basis of the unusual mutation responsible for these disorders. This review will discuss what has been learnt to date about mechanisms of repeat instability from a knock-in FXD mouse model and what the implications of these findings may be for humans carrying expansion-prone FMR1 alleles. | es |
dc.description.sponsorship | National Institute of Diabetes and Digestive and Kidney Diseases DK057808 | es |
dc.format | application/pdf | es |
dc.language.iso | eng | es |
dc.publisher | Multidisciplinary Digital Publishing Institute (MDPI) | es |
dc.relation.ispartof | Brain Sciences, 9 (3), 52-1-52-15. | |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject | Base excision repair (BER) | es |
dc.subject | CGG Repeat Expansion Disease | es |
dc.subject | Contraction | es |
dc.subject | DNA instability | es |
dc.subject | Double-strand break repair (DSBR) | es |
dc.subject | Expansion | es |
dc.subject | Mismatch repair (MMR) | es |
dc.subject | Mosaicism | es |
dc.subject | Non-homologous end-joining (NHEJ) | es |
dc.subject | Transcription coupled repair (TCR) | es |
dc.title | Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model | es |
dc.type | info:eu-repo/semantics/article | es |
dcterms.identifier | https://ror.org/03yxnpp24 | |
dc.type.version | info:eu-repo/semantics/publishedVersion | es |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | es |
dc.contributor.affiliation | Universidad de Sevilla. Departamento de Bioquímica Médica y Biología Molecular e Inmunología | es |
dc.relation.projectID | DK057808 | es |
dc.relation.publisherversion | http://doi.org/10.3390/brainsci9030052 | es |
dc.identifier.doi | 10.3390/brainsci9030052 | es |
idus.format.extent | 15 p. | es |
dc.journaltitle | Brain Sciences | es |
dc.publication.volumen | 9 | es |
dc.publication.issue | 3 | es |
dc.publication.initialPage | 52-1 | es |
dc.publication.endPage | 52-15 | es |