{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:10:44Z","timestamp":1761707444823},"reference-count":71,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1997,6,1]],"date-time":"1997-06-01T00:00:00Z","timestamp":865123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Huntington disease is an inherited neurodegeneration, for which the associated mutation was isolated in 1993. The mutation is an expansion of a CAG trinucleotide repeat, which translates to give a polyglutamine tract at the N\u2010terminus of a large protein, huntingtin. Neither the normal nor the pathogenic functions of this protein have been identified, but it is clear that pathogenesis is mediated through the expanded polyglutamine tract within the protein, and that polyglutamine is toxic to cells. A number of proteins which interact with the N\u2010terminal region of huntingtin have been isolated, but this has not, so far, yielded a rationale for pathogenesis. Huntingtin is found in areas of the brain that degenerate in this disease, but is also associated with pathogenic inclusions in Alzheimer disease and Pick disease. It is possible that Huntington disease has pathogenic mechanisms in common with these other neurodegenerative diseases, and that the mechanism may relate to the formation of abnormal, cytoskeletal\u2010associated, inclusions within cells.<\/jats:p>","DOI":"10.1023\/a:1005340302695","type":"journal-article","created":{"date-parts":[[2002,12,21]],"date-time":"2002-12-21T21:48:34Z","timestamp":1040507314000},"page":"125-138","source":"Crossref","is-referenced-by-count":16,"title":["Huntington disease: Advances in molecular and cell biology"],"prefix":"10.1002","volume":"20","author":[{"given":"A. L.","family":"Jones","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics University of Wales College of Medicine  Heath Park Cardiff CF4 4XN UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. D.","family":"Wood","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University of Wales College of Medicine  Heath Park Cardiff CF4 4XN UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. S.","family":"Harper","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University of Wales College of Medicine  Heath Park Cardiff CF4 4XN UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1997,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02257483"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-398"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.6.2249"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90106-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/355548a0"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.10.5037"},{"key":"e_1_2_1_8_1","first-page":"27","article-title":"Mouse Huntington's disease homologue (hdh)","volume":"20","author":"Barnes GT","year":"1994","journal-title":"Somat Cell Moll Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380304"},{"key":"e_1_2_1_10_1","first-page":"S25","article-title":"Pathophysiology of the Alzheimer's syndrome","volume":"43","author":"Blass JP","year":"1993","journal-title":"Neurology"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm0396-347"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90273-2"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/355547a0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(93)90448-T"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.271.5254.1423"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.7901908"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90346-1"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-387"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005344403603"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.2.177"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90718-6"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.19.8710"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1566067"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/355545a0"},{"key":"e_1_2_1_25_1","first-page":"123","volume-title":"Huntington's Disease","author":"Harper PS","year":"1996"},{"key":"e_1_2_1_26_1","first-page":"201","volume-title":"Huntington's Disease","author":"Harper PS","year":"1996"},{"key":"e_1_2_1_27_1","first-page":"1","volume-title":"Huntington's Disease","author":"Harper PS","year":"1996"},{"key":"e_1_2_1_28_1","first-page":"359","volume-title":"Huntington's Disease","author":"Harper PS","year":"1996"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.2.197"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1985.tb09016.x"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90585-E"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0696-196"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(94)90458-8"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(90)82626-6"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.465"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.271.32.19385"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1139\/o84-102"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90300-F"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.9.1311"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.11.4044"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410370213"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/378398a0"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.10.4839"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.1.85"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198807000-00001"},{"key":"e_1_2_1_46_1","first-page":"317","volume-title":"Huntington's Disease","author":"MacMillan J","year":"1996"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(05)80153-4"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81369-0"},{"key":"e_1_2_1_49_1","first-page":"73","article-title":"A study comparing mutation triplet repeat size and phenotypes in patients with Huntington's disease","volume":"3","author":"Neal JW","year":"1994","journal-title":"Neurodegeneration"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-6147(90)90129-V"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1002\/pro.5560031002"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.12.5355"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.130.5.1093"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199409000-00002"},{"key":"e_1_2_1_55_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90138-8"},{"key":"e_1_2_1_56_1","first-page":"16","article-title":"Phenotypic characterisation of individuals with 30\u201340 CAG repeats in the Huntington's disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36\u201339 repeats","volume":"58","author":"Rubinsztein DC","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1365"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.7.1173"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1993.tb13420.x"},{"key":"e_1_2_1_60_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(95)90345-3"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.88.19.8460"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-393"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.92.14.6509"},{"key":"e_1_2_1_64_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1193-259"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0595-104"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1038\/378403a0"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1159\/000117083"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198511000-00003"},{"key":"e_1_2_1_69_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm0896-871"},{"key":"e_1_2_1_70_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-6147(90)90038-A"},{"key":"e_1_2_1_71_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.4.481"},{"key":"e_1_2_1_72_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00309625"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1005340302695","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1005340302695","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T02:59:28Z","timestamp":1694746768000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1005340302695"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,6]]},"references-count":71,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1997,6]]}},"alternative-id":["10.1023\/A:1005340302695"],"URL":"https:\/\/doi.org\/10.1023\/a:1005340302695","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,6]]}}}