{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["5(1)"],"submitter":["Smith EJ"],"pubmed_abstract":["Huntingtin-lowering approaches that target huntingtin expression are a major focus for therapeutic intervention for Huntington's disease. When the cytosine, adenine and guanine repeat is expanded, the huntingtin pre-mRNA is alternatively processed to generate the full-length huntingtin and <i>HTT1a</i> transcripts. <i>HTT1a</i> encodes the aggregation-prone and highly pathogenic exon 1 huntingtin protein. In evaluating huntingtin-lowering approaches, understanding how the targeting strategy modulates levels of both transcripts and the huntingtin protein isoforms that they encode will be essential. Given the aggregation-propensity of exon 1 huntingtin, the impact of a given strategy on the levels and subcellular location of aggregated huntingtin will need to be determined. We have developed"],"journal":["Brain communications"],"pagination":["fcad010"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9901570"],"repository":["biostudies-literature"],"pubmed_title":["Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches."],"pmcid":["PMC9901570"],"pubmed_authors":["Milton RE","Landles C","Bates GP","Smith EJ","Ast A","Gomez-Paredes C","Schindler F","Sathasivam K","Osborne GF","Mason MA","Taxy BA","Wanker EE","Zhang C","Duan W"],"additional_accession":[]},"is_claimable":false,"name":"Early detection of exon 1 huntingtin aggregation in zQ175 brains by molecular and histological approaches.","description":"Huntingtin-lowering approaches that target huntingtin expression are a major focus for therapeutic intervention for Huntington's disease. When the cytosine, adenine and guanine repeat is expanded, the huntingtin pre-mRNA is alternatively processed to generate the full-length huntingtin and <i>HTT1a</i> transcripts. <i>HTT1a</i> encodes the aggregation-prone and highly pathogenic exon 1 huntingtin protein. In evaluating huntingtin-lowering approaches, understanding how the targeting strategy modulates levels of both transcripts and the huntingtin protein isoforms that they encode will be essential. Given the aggregation-propensity of exon 1 huntingtin, the impact of a given strategy on the levels and subcellular location of aggregated huntingtin will need to be determined. We have developed","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-04T12:56:42.175Z","creation":"2025-04-04T12:56:42.175Z"},"accession":"S-EPMC9901570","cross_references":{"pubmed":["36756307"],"doi":["10.1093/braincomms/fcad010"]}}