{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T22:28:20Z","timestamp":1768688900543,"version":"3.49.0"},"reference-count":14,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2006,11]]},"abstract":"<jats:p>Codon reiteration disorders are caused by abnormal expansions of either polyglutamine or polyalanine tracts within the coding region of a protein. These mutations impair normal protein folding, resulting in aggregate formation in the affected tissues. Huntington\u2019s disease is the most common of the nine disorders caused by polyglutamine expansion mutations. The most extensively studied polyalanine expansion disorder is oculopharyngeal muscular dystrophy. There may be a link between diseases caused by polyglutamine and polyalanine expansion mutations as it has been shown that the expanded CAG\/polyglutamine tract within the <jats:italic>SCA3<\/jats:italic> gene can shift to the CGA\/polyalanine frame. Here, we show that this frameshifting phenomenon is more widespread and occurs in Huntington\u2019s disease. We have shown both +1 frameshift and +2 frameshift products (which may contain polyalanine or polyserine tracts, respectively) in human postmortem Huntington\u2019s disease brains and in a transgenic mouse model of Huntington\u2019s disease. Our data suggest that +1 and +2 frameshift products are generated at low levels. This may be relevant to the pathogenesis of human Huntington\u2019s disease, as we have previously shown that both polyserine and polyalanine-containing proteins are modifiers of mutant huntingtin toxicity, with low expression levels of polyalanine-containing proteins having a protective effect.<\/jats:p>","DOI":"10.1136\/jmg.2006.044222","type":"journal-article","created":{"date-parts":[[2006,6,26]],"date-time":"2006-06-26T20:32:36Z","timestamp":1151353956000},"page":"893-896","source":"Crossref","is-referenced-by-count":47,"title":["Polyalanine and polyserine frameshift products in Huntington\u2019s disease"],"prefix":"10.1136","volume":"43","author":[{"given":"J E","family":"Davies","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D C","family":"Rubinsztein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2006,6,26]]},"reference":[{"key":"2025101713154455000_43.11.893.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"2025101713154455000_43.11.893.2","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5334.1990"},{"key":"2025101713154455000_43.11.893.3","first-page":"109","volume":"1","year":"2000","journal-title":"Nat Rev Neurosci"},{"key":"2025101713154455000_43.11.893.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2003.11.002"},{"key":"2025101713154455000_43.11.893.5","doi-asserted-by":"crossref","unstructured":"Davies JE, Berger Z, Rubinsztein DC. Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder. 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