{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,4]],"date-time":"2022-04-04T09:55:19Z","timestamp":1649066119396},"reference-count":0,"publisher":"Polskie Towarzystwo Biochemiczne (Polish Biochemical Society)","license":[{"start":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T00:00:00Z","timestamp":1585094400000},"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>Choroba Huntingtona (HD) jest chorob\u0105 genetyczn\u0105 spowodowan\u0105 przez zbyt du\u017c\u0105 liczb\u0119 powt\u00f3rze\u0144 CAG w egzonie 1 genu HTT, koduj\u0105cym huntingtyn\u0119. Od wyst\u0105pienia pierwszych symptom\u00f3w choroby \u015brednia d\u0142ugo\u015b\u0107 \u017cycia wynosi 15-20 lat, kiedy to post\u0119puj\u0105 objawy wynikaj\u0105ce z neurodegeneracji. W zwi\u0105zku z tym istnieje du\u017ce zapotrzebowanie na skuteczn\u0105 metod\u0119 leczenia tego schorzenia. Opracowywane s\u0105 strategie wykorzystuj\u0105ce mechanizmy wyciszenia ekspresji gen\u00f3w, w tym techniki edycji DNA. W tej pracy przedstawione s\u0105 najwa\u017cniejsze testowane obecnie podej\u015bcia, ze szczeg\u00f3lnym uwzgl\u0119dnieniem strategii opieraj\u0105cych si\u0119 na wykorzystaniu oligonukleotyd\u00f3w antysensowych (ASO), technologii interferencji RNA (RNAi) i CRISPR-Cas9. Om\u00f3wione s\u0105 prowadzone obecnie pr\u00f3by kliniczne leczenia przyczynowego, inne najwa\u017cniejsze pr\u00f3by terapii, a tak\u017ce obecnie stosowane \u015brodki farmakologiczne.<\/jats:p>","DOI":"10.18388\/pb.2020_313","type":"journal-article","created":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T18:19:43Z","timestamp":1585160383000},"source":"Crossref","is-referenced-by-count":0,"title":["Strategie wyciszania ekspresji zmutowanego genu w terapii choroby Huntingtona"],"prefix":"10.18388","author":[{"given":"Agnieszka","family":"Fiszer","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bartosz","family":"Nowak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7609","published-online":{"date-parts":[[2020,3,25]]},"container-title":["Post\u0119py Biochemii"],"original-title":[],"link":[{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/313\/541","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/313\/541","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,25]],"date-time":"2020-03-25T18:19:44Z","timestamp":1585160384000},"score":1,"resource":{"primary":{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/view\/313"}},"subtitle":["Inhibicja genu huntingtyny"],"short-title":[],"issued":{"date-parts":[[2020,3,25]]},"references-count":0,"URL":"https:\/\/doi.org\/10.18388\/pb.2020_313","relation":{},"ISSN":["0032-5422"],"issn-type":[{"value":"0032-5422","type":"print"}],"subject":[],"published":{"date-parts":[[2020,3,25]]}}}