{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T03:25:40Z","timestamp":1767929140747,"version":"3.49.0"},"reference-count":0,"publisher":"Polskie Towarzystwo Biochemiczne (Polish Biochemical Society)","issue":"3","license":[{"start":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T00:00:00Z","timestamp":1759276800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Postepy Biochem"],"abstract":"<jats:p>Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease leading to progressive degeneration of motor neurons, muscle weakness and respiratory failure. Despite intensive research, the pathomechanisms of ALS have not been fully elucidated. This article presents the current state of knowledge on the genetic and molecular mechanisms of this disease, with a focus on mutations in the SOD1, C9ORF72, TARDBP, FUS, TBK1 genes, as well as recent discoveries in this area. Key pathogenetic processes are discussed, including disruption of RNA homeostasis, oxidative stress, mitochondrial dysfunction and protein aggregation. In addition, current therapeutic strategies are reviewed, including both registered drugs, such as riluzole and edaravone, and modern approaches, such as gene therapy, antisense oligonucleotides, immunotherapy and gene editing technologies, including CRISPR\/Cas9. Special attention was given to clinical trials and their potential impact on future treatment options for ALS.<\/jats:p>","DOI":"10.18388\/pb.2021_599","type":"journal-article","created":{"date-parts":[[2025,9,29]],"date-time":"2025-09-29T19:06:48Z","timestamp":1759172808000},"page":"252-259","source":"Crossref","is-referenced-by-count":0,"title":["Genetyka i molekularne patomechanizmy stwardnienia zanikowego bocznego oraz perspektywy terapii - obecny stan wiedzy","Genetic and Molecular Pathomechanisms of Amyotrophic Lateral Sclerosis and Therapeutic Perspectives \u2013 Current State of Knowledge"],"prefix":"10.18388","volume":"71","author":[{"given":"Krzysztof","family":"Kalkowski","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"7609","published-online":{"date-parts":[[2025,10,1]]},"container-title":["Post\u0119py Biochemii"],"original-title":[],"link":[{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/599\/1753","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/599\/1768","content-type":"application\/epub+zip","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/download\/599\/1752","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T21:43:15Z","timestamp":1767908595000},"score":1,"resource":{"primary":{"URL":"https:\/\/postepybiochemii.ptbioch.edu.pl\/index.php\/PB\/article\/view\/599"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,1]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,10,1]]}},"URL":"https:\/\/doi.org\/10.18388\/pb.2021_599","relation":{},"ISSN":["0032-5422"],"issn-type":[{"value":"0032-5422","type":"print"}],"subject":[],"published":{"date-parts":[[2025,10,1]]}}}