{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T20:45:54Z","timestamp":1783975554315,"version":"3.55.0"},"reference-count":47,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2019,8,23]],"date-time":"2019-08-23T00:00:00Z","timestamp":1566518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"This work was supported in part by grants from the National Institutes of Health [P01-35HG000205], National Institute of Neurological Disorders and Stroke [R21NS082927], Prize money awarded through the NIH Follow That Cell Challenge, internal support from","award":["NIH Follow That Cell Challenge"],"award-info":[{"award-number":["NIH Follow That Cell Challenge"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>A higher incidence of diabetes was observed among family members of individuals affected by Huntington\u2019s Disease with no follow-up studies investigating the genetic nature of the observation. Using a genome-wide association study (GWAS), RNA sequencing (RNA-Seq) analysis and western blotting of Rattus norvegicus and human, we were able to identify that the gene family of sortilin receptors was affected in Huntington\u2019s Disease patients. We observed that less than 5% of SNPs were of statistical significance and that sortilins and HLA\/MHC gene expression or SNPs were associated with mutant huntingtin (mHTT). These results suggest that ST14A cells derived from R. norvegicus are a reliable model of HD, since sortilins were identified through analysis of the transcriptome in these cells. These findings help highlight the genes involved in mechanisms targeted by diabetes drugs, such as glucose transporters as well as proteins controlling insulin release related to mHTT. To the best of our knowledge, this is the first GWAS using RNA-Seq data from both ST14A rat HD cell model and human Huntington\u2019s Disease.<\/jats:p>","DOI":"10.3390\/cells8090962","type":"journal-article","created":{"date-parts":[[2019,8,26]],"date-time":"2019-08-26T04:38:23Z","timestamp":1566794303000},"page":"962","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mutant Huntingtin Affects Diabetes and Alzheimer\u2019s Markers in Human and Cell Models of Huntington\u2019s Disease"],"prefix":"10.3390","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8911-0542","authenticated-orcid":false,"given":"Gepoliano","family":"Chaves","sequence":"first","affiliation":[{"name":"Department of Biomolecular Engineering, University of California, Santa Cruz, CA 95064, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Stanley","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Engineering, University of California, Santa Cruz, CA 95064, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nader","family":"Pourmand","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Engineering, University of California, Santa Cruz, CA 95064, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.3233\/JHD-170253","article-title":"Huntington\u2019s Disease and Diabetes: Chronological Sequence of its Association","volume":"6","author":"Montojo","year":"2017","journal-title":"J. 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