{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,3,28]],"date-time":"2023-03-28T04:27:50Z","timestamp":1679977670237},"reference-count":0,"publisher":"Polskie Towarzystwo Biochemiczne (Polish Biochemical Society)","license":[{"start":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T00:00:00Z","timestamp":1679875200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Postepy Biochem"],"abstract":"<jats:p>Choroba Charcot-Marie-Tooth (CMT) to genetycznie uwarunkowana, nieuleczalna choroba neurodegenracyjna, w kt\u00f3rej etiologie zaanga\u017cowane s\u0105 mutacje w prawie stu r\u00f3\u017cnych genach. Choroba dotyka nerwy obwodowe kontroluj\u0105ce prac\u0119 mi\u0119\u015bni oraz ich os\u0142onki mielinowe, co prowadzi w efekcie do post\u0119puj\u0105cego zaniku mi\u0119\u015bni. Jednymi z ciekawszych gen\u00f3w, kt\u00f3rych mutacje s\u0105 powi\u0105zane z fenotypem CMT, s\u0105 geny koduj\u0105ce syntetazy aminoacylo-tRNA (aaRS). Bia\u0142ka te s\u0105 enzymami, kt\u00f3rych powszechn\u0105 rol\u0105 jest katalizowanie reakcji przenoszenia poszczeg\u00f3lnych aminokwas\u00f3w na cz\u0105steczki tRNA, a tym samym udzia\u0142 w t\u0142umaczeniu kodu genetycznego na j\u0119zyk bia\u0142ek. aaRS w wyniku powstaj\u0105cych w toku ewolucji mutacji zacz\u0119\u0142y nabywa\u0107 nowe funkcje, kt\u00f3re do dzi\u015b pozostaj\u0105 niezidentyfikowane, pomimo poznawania moleku\u0142 wi\u0105\u017c\u0105cych si\u0119 z aaRS. Jednak\u017ce badania molekularne przypadk\u00f3w mutacji u pacjent\u00f3w z CMT oraz organizm\u00f3w modelowych, przybli\u017caj\u0105 naukowc\u00f3w do poznania nowych proces\u00f3w, w kt\u00f3re zaanga\u017cowane s\u0105 aaRS i potencjalnie t\u0142umaczy\u0142yby ich kluczow\u0105 rol\u0119 w patogenezie CMT.<\/jats:p>","DOI":"10.18388\/pb.2021_481","type":"journal-article","created":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T15:21:45Z","timestamp":1679930505000},"source":"Crossref","is-referenced-by-count":0,"title":["Poszukiwanie niekanonicznych funkcji syntetaz aminoacylo-tRNA w oparciu  o mutacje obecne u pacjent\u00f3w z chorob\u0105 Charcot-Marie-Tooth"],"prefix":"10.18388","author":[{"given":"Julia O.","family":"Misiorek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7609","published-online":{"date-parts":[[2023,3,27]]},"container-title":["Post\u0119py Biochemii"],"original-title":[],"link":[{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/481\/1189","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/481\/1190","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/481\/1189","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T15:21:45Z","timestamp":1679930505000},"score":1,"resource":{"primary":{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/view\/481"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,27]]},"references-count":0,"URL":"https:\/\/doi.org\/10.18388\/pb.2021_481","relation":{},"ISSN":["0032-5422"],"issn-type":[{"value":"0032-5422","type":"print"}],"subject":[],"published":{"date-parts":[[2023,3,27]]}}}