{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T16:03:55Z","timestamp":1793030635344,"version":"4.5.0"},"reference-count":111,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2020,8,10]],"date-time":"2020-08-10T00:00:00Z","timestamp":1597017600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["G1100357"],"award-info":[{"award-number":["G1100357"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/N022556\/1"],"award-info":[{"award-number":["MR\/N022556\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"name":"MRC Centre for Reproductive Health","id":[{"id":"https:\/\/ror.org\/02f4tsf92","id-type":"ROR","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000325","name":"Wellbeing of Women","doi-asserted-by":"publisher","award":["PRF005"],"award-info":[{"award-number":["PRF005"]}],"id":[{"id":"10.13039\/501100000325","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The FMR1 gene contains a polymorphic CGG trinucleotide sequence within its 5\u2032 untranslated region. More than 200 CGG repeats (termed a full mutation) underlie the severe neurodevelopmental condition fragile X syndrome, while repeat lengths that range between 55 and 200 (termed a premutation) result in the conditions fragile X-associated tremor\/ataxia syndrome and fragile X-associated premature ovarian insufficiency (FXPOI). Premutations in FMR1 are the most common monogenic cause of premature ovarian insufficiency and are routinely tested for clinically; however, the mechanisms that contribute to the pathology are still largely unclear. As studies in this field move towards unravelling the molecular mechanisms involved in FXPOI aetiology, we review the evidence surrounding the two main theories which describe an RNA toxic gain-of-function mechanism, resulting in the loss of function of RNA-binding proteins, or a protein-based mechanism, where repeat-associated non-AUG translation leads to the formation of an abnormal polyglycine containing protein, called FMRpolyG.<\/jats:p>","DOI":"10.1093\/molehr\/gaaa057","type":"journal-article","created":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T15:15:54Z","timestamp":1596467754000},"page":"727-737","source":"Crossref","is-referenced-by-count":23,"title":["The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?"],"prefix":"10.1093","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4531-8154","authenticated-orcid":false,"given":"Roseanne","family":"Rosario","sequence":"first","affiliation":[{"name":"MRC Centre for Reproductive Health, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Anderson","sequence":"additional","affiliation":[{"name":"MRC Centre for Reproductive Health, Queens Medical Research Institute, University of Edinburgh, Edinburgh, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,8,10]]},"reference":[{"key":"2020101516343913300_gaaa057-B1","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1093\/emboj\/21.3.195","article-title":"The connection between transcription and genomic instability","volume":"21","author":"Aguilera","year":"2002","journal-title":"EMBO 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