{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,29]],"date-time":"2024-07-29T05:55:07Z","timestamp":1722232507832},"reference-count":0,"publisher":"Polskie Towarzystwo Biochemiczne (Polish Biochemical Society)","issue":"3","license":[{"start":{"date-parts":[[2021,7,19]],"date-time":"2021-07-19T00:00:00Z","timestamp":1626652800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Postepy Biochem"],"abstract":"<jats:p>Lipaza lizosomalna katalizuje reakcj\u0119 hydrolizy estr\u00f3w cholesterolu i trigliceryd\u00f3w, kt\u00f3rej produktem s\u0105 wolne kwasy t\u0142uszczowe i wolny cholesterol, b\u0119d\u0105ce kluczowymi mediatorami wewn\u0105trzkom\u00f3rkowej homeostazy lipidowej. Deficyt LAL jest chorob\u0105 monogenow\u0105, spowodowan\u0105 obecno\u015bci\u0105 patogennych wariant\u00f3w molekularnych w genie LIPA, o dziedziczeniu autosomalnym recesywnym. W deficycie LAL dochodzi do kumulacji estr\u00f3w cholesterolu i tr\u00f3jgliceryd\u00f3w w lizosomach, co wt\u00f3rnie powoduje zwi\u0119kszon\u0105 syntez\u0119 endogennego cholesterolu, apolipoproteiny B oraz lipoprotein o niskiej g\u0119sto\u015bci (VLDL). Diagnostyka deficytu kwa\u015bnej lipazy jest \u0142atwa, dzi\u0119ki dost\u0119pnej obecnie metodzie badania aktywno\u015bci enzymu w suchej kropli krwi. Analiza molekularna jest niezb\u0119dna celem weryfikacji diagnozy klinicznej i biochemicznej oraz analizy korelacji genotyp-fenotyp. Sebelipaza alfa jest rekombinowana\u0328 ludzka\u0328 lizosomalna\u0328 lipaza\u0328 przeznaczon\u0105 do stosowania w enzymatycznej terapii zast\u0119pczej u pacjent\u00f3w z niedoborem LAL.<\/jats:p>","DOI":"10.18388\/pb.2021_389","type":"journal-article","created":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T20:08:41Z","timestamp":1636747721000},"page":"231-235","source":"Crossref","is-referenced-by-count":1,"title":["Zaburzenie homeostazy lipidowej w deficycie lizosomalnej lipazy \u2013 patomechanizm, diagnostyka i leczenie"],"prefix":"10.18388","volume":"67","author":[{"given":"Patryk","family":"Lipi\u0144ski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Tylki-Szyma\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7609","published-online":{"date-parts":[[2021,7,19]]},"container-title":["Post\u0119py Biochemii"],"original-title":[],"link":[{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/389\/833","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/389\/834","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/389\/858","content-type":"application\/epub+zip","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/389\/833","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,11,12]],"date-time":"2021-11-12T20:08:41Z","timestamp":1636747721000},"score":1,"resource":{"primary":{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/view\/389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,19]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2021,10,9]]}},"URL":"https:\/\/doi.org\/10.18388\/pb.2021_389","relation":{},"ISSN":["0032-5422"],"issn-type":[{"value":"0032-5422","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7,19]]}}}