{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T04:07:59Z","timestamp":1782446879066,"version":"3.54.5"},"reference-count":63,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T00:00:00Z","timestamp":1652832000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Imperial\/ICR\/NIHR BRC\/NHS Confidence in Concept (iCiC)","award":["WT102944"],"award-info":[{"award-number":["WT102944"]}]},{"name":"Imperial\/ICR\/NIHR BRC\/NHS Confidence in Concept (iCiC)","award":["UMO-2018\/30\/E\/NZ7\/00614"],"award-info":[{"award-number":["UMO-2018\/30\/E\/NZ7\/00614"]}]},{"name":"Wellcome Trust U.K.","award":["WT102944"],"award-info":[{"award-number":["WT102944"]}]},{"name":"Wellcome Trust U.K.","award":["UMO-2018\/30\/E\/NZ7\/00614"],"award-info":[{"award-number":["UMO-2018\/30\/E\/NZ7\/00614"]}]},{"name":"National Science Centre in Poland","award":["WT102944"],"award-info":[{"award-number":["WT102944"]}]},{"name":"National Science Centre in Poland","award":["UMO-2018\/30\/E\/NZ7\/00614"],"award-info":[{"award-number":["UMO-2018\/30\/E\/NZ7\/00614"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cells"],"abstract":"<jats:p>Ocular abnormalities are becoming associated with a spectrum of pathological events in various neurodegenerative diseases. Huntington\u2019s disease (HD) is just such an example of a fatal neurological disorder, where mutated genes (CAG trinucleotide expansions in the Huntingtin gene) have widespread expression, leading to the production of mutant Huntingtin (mHTT) protein. It is well known that mutant HTT protein is prone to form toxic aggregates, which are a typical pathological feature, along with global transcriptome alterations. In this study, we employed well-established quantitative methods such as Affymetrix arrays and quantitative PCR (qPCR) to identify a set of transcriptional biomarkers that will track HD progression in three well-established mouse models: R6\/2, R6\/1, and HdhQ150. Our array analysis revealed significantly deregulated networks that are related to visual processes and muscle contractions. Furthermore, our targeted quantitative analysis identified a panel of biomarkers with some being dysregulated even at the presymptomatic stage of the disease, e.g., Opn1mw, Opn1sw, and Pfkfb2. Some of the deregulated genes identified in this study have been linked to other genetic ocular disorders such as: GNAT2, a source of achromatopsia, and REEP6, linked to Retinitis pigmentosa. It may thus be a useful platform for preclinical evaluations of therapeutic interventions.<\/jats:p>","DOI":"10.3390\/cells11101675","type":"journal-article","created":{"date-parts":[[2022,5,18]],"date-time":"2022-05-18T11:59:37Z","timestamp":1652875177000},"page":"1675","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of the Transcriptional Biomarkers Panel Linked to Pathological Remodelling of the Eye Tissues in Various HD Mouse Models"],"prefix":"10.3390","volume":"11","author":[{"given":"Iwona","family":"Mazur-Micha\u0142ek","sequence":"first","affiliation":[{"name":"Department of Histology and Embryology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2525-5777","authenticated-orcid":false,"given":"Marcin","family":"Ruci\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3258-9609","authenticated-orcid":false,"given":"Mateusz","family":"Sowi\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulina","family":"Pietras","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Le\u015bniczak-Staszak","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5059-268X","authenticated-orcid":false,"given":"Witold","family":"Szaflarski","sequence":"additional","affiliation":[{"name":"Department of Histology and Embryology, Poznan University of Medical Sciences, 61-701 Poznan, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Isalan","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, Imperial College London, Exhibition Road, London SW7 2AZ, UK"},{"name":"Imperial College Centre for Synthetic Biology, Imperial College London, London SW7 2AZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9874-6753","authenticated-orcid":false,"given":"Michal","family":"Mielcarek","sequence":"additional","affiliation":[{"name":"Department of Life Sciences, Imperial College London, Exhibition Road, London SW7 2AZ, UK"},{"name":"Imperial College Centre for Synthetic Biology, Imperial College London, London SW7 2AZ, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"566428","DOI":"10.3389\/fnins.2020.566428","article-title":"Neurodegenerative Disorders of the Eye and of the Brain: A Perspective on Their Fluid-Dynamical Connections and the Potential of Mechanism-Driven Modeling","volume":"14","author":"Guidoboni","year":"2020","journal-title":"Front. 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