{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T05:32:15Z","timestamp":1775194335872,"version":"3.50.1"},"reference-count":21,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T00:00:00Z","timestamp":1731024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Gaucher disease (GD) is a lysosomal lipid storage disorder caused by \u03b2-glucocerebrosidase (encoded by GBA1 gene) activity deficiency, resulting in the accumulation of glucosylceramide (Gb1) and its deacylated metabolite glucosylsphingosine (lyso-Gb1). Lyso-Gb1 has been studied previously and proved to be a sensitive biomarker, distinguishing patients with GD from carriers and healthy subjects. It was shown that its level corresponds with \u03b2-glucocerebrosidase activity, thus it remains unknown as to why carriers have slightly higher lyso-Gb1 level than healthy population. This is the first report on lyso-Gb1 levels describing representative cohort of GD carriers. Our data of 48 GD carriers, including three newborns, indicated that there are significant differences in lyso-Gb1 levels between carriers having a GD-affected mother and a healthy mother (11.53 and 8.45, respectively, p = 0.00077), and between carriers of the L483P GBA1 variant and carriers of other GBA1 pathogenic variants (9.85 and 7.03, respectively, p = 0.07). Through analysing our unique data of three newborns whose mothers are patients with GD, we also found that lyso-Gb1 is most probably transferred to the foetus via placenta.<\/jats:p>","DOI":"10.3390\/ijms252212021","type":"journal-article","created":{"date-parts":[[2024,11,12]],"date-time":"2024-11-12T03:53:14Z","timestamp":1731383594000},"page":"12021","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Effects of GBA1 Variants and Prenatal Exposition on the Glucosylsphingosine (Lyso-Gb1) Levels in Gaucher Disease Carriers"],"prefix":"10.3390","volume":"25","author":[{"given":"Paulina","family":"Szyma\u0144ska-Ro\u017cek","sequence":"first","affiliation":[{"name":"Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, 02-097 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1849-8375","authenticated-orcid":false,"given":"Patryk","family":"Lipi\u0144ski","sequence":"additional","affiliation":[{"name":"Institute of Clinical Sciences, Maria Sk\u0142odowska-Curie Medical Academy, 00-136 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grazina","family":"Kleinotiene","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8537-4404","authenticated-orcid":false,"given":"Pawe\u0142","family":"Dubiela","sequence":"additional","affiliation":[{"name":"Department of Regenerative Medicine and Immune Regulation, Medical University of Bialystok, 15-089 Bialystok, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8935-1768","authenticated-orcid":false,"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Nutrition and Metabolic Diseases, The Children\u2019s Memorial Health Institute, 04-730 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Levade, T., Astudillo, L., Serratrice, J., and Brassier, A. 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