{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:07:46Z","timestamp":1792019266769,"version":"4.4.0"},"reference-count":82,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"26","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Adv."],"published-print":{"date-parts":[[2024,6,28]]},"abstract":"<jats:p>\n                    Mutations in\n                    <jats:italic>GBA1<\/jats:italic>\n                    cause Gaucher disease and are the most important genetic risk factor for Parkinson\u2019s disease. However, analysis of transcription at this locus is complicated by its highly homologous pseudogene,\n                    <jats:italic>GBAP1<\/jats:italic>\n                    . We show that &gt;50% of short RNA-sequencing reads mapping to\n                    <jats:italic>GBA1<\/jats:italic>\n                    also map to\n                    <jats:italic>GBAP1<\/jats:italic>\n                    . Thus, we used long-read RNA sequencing in the human brain, which allowed us to accurately quantify expression from both\n                    <jats:italic>GBA1<\/jats:italic>\n                    and\n                    <jats:italic>GBAP1<\/jats:italic>\n                    . We discovered significant differences in expression compared to short-read data and identify currently unannotated transcripts of both\n                    <jats:italic>GBA1<\/jats:italic>\n                    and\n                    <jats:italic>GBAP1<\/jats:italic>\n                    . These included protein-coding transcripts from both genes that were translated in human brain, but without the known lysosomal function\u2014yet accounting for almost a third of transcription. Analyzing brain-specific cell types using long-read and single-nucleus RNA sequencing revealed region-specific variations in transcript expression. Overall, these findings suggest nonlysosomal roles for\n                    <jats:italic>GBA1<\/jats:italic>\n                    and\n                    <jats:italic>GBAP1<\/jats:italic>\n                    with implications for our understanding of the role of\n                    <jats:italic>GBA1<\/jats:italic>\n                    in health and disease.\n                  <\/jats:p>","DOI":"10.1126\/sciadv.adk1296","type":"journal-article","created":{"date-parts":[[2024,6,26]],"date-time":"2024-06-26T14:00:22Z","timestamp":1719410422000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":27,"title":["The annotation of\n                    <i>GBA1<\/i>\n                    has been concealed by its protein-coding pseudogene\n                    <i>GBAP1<\/i>"],"prefix":"10.1126","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0541-7537","authenticated-orcid":true,"given":"Emil 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