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So far, the pathomechanism of GD was investigated mainly in animal models. In order to delineate the molecular changes in GD cells we analysed gene expression profile in cultured skin fibroblasts from GD patients, control individuals and, additionally, patients with Niemann-Pick type C disease (NPC). We used expression microarrays with subsequent validation by qRT-PCR method. In the comparison GD patients vs. controls, the most pronounced relative fold change (rFC) in expression was observed for genes <jats:italic>IL13RA2<\/jats:italic> and <jats:italic>IFI6<\/jats:italic> (up-regulated) and <jats:italic>ATOH8<\/jats:italic> and <jats:italic>CRISPLD2<\/jats:italic> (down-regulated). Products of up-regulated and down-regulated genes were both enriched in genes associated with immune response. In addition, products of down-regulated genes were associated with cell-to-cell and cell-to-matrix interactions, matrix remodelling, PI3K-Akt signalling pathway and a neuronal survival pathway. Up-regulation of <jats:italic>PLAU<\/jats:italic>, <jats:italic>IFIT1<\/jats:italic>, <jats:italic>TMEM158<\/jats:italic> and down-regulation of <jats:italic>ATOH8<\/jats:italic> and <jats:italic>ISLR<\/jats:italic> distinguished GD patients from both NPC patients and healthy controls. Our results emphasize the inflammatory character of changes occurring in human GD cells indicating that further studies on novel therapeutics for GD should consider anti-inflammatory agents.<\/jats:p>","DOI":"10.1038\/s41598-019-42584-1","type":"journal-article","created":{"date-parts":[[2019,4,15]],"date-time":"2019-04-15T10:02:52Z","timestamp":1555322572000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes"],"prefix":"10.1038","volume":"9","author":[{"given":"Agnieszka","family":"\u0141ugowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katarzyna","family":"Hetma\u0144czyk-Sawicka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roksana","family":"Iwanicka-Nowicka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5331-7840","authenticated-orcid":false,"given":"Anna","family":"Fogtman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaros\u0142aw","family":"Cie\u015bla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna Karolina","family":"Purzycka-Olewiecka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominika","family":"Sitarska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirella","family":"Filocamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Lualdi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Bednarska-Makaruk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Koblowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,4,15]]},"reference":[{"key":"42584_CR1","doi-asserted-by":"publisher","first-page":"11263","DOI":"10.1016\/S0140-6736(08)61522-6","volume":"372","author":"GA Grabowski","year":"2008","unstructured":"Grabowski, G. 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