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A new Caenorhabditis elegans model to study copper toxicity in Wilson disease.
Catalano F, O'Brien TJ, Mekhova AA, Sepe LV, Elia M, De Cegli R, Gallotta I, Santonicola P, Zampi G, Ilyechova EY, Romanov AA, Samuseva PD, Salzano J, Petruzzelli R, Polishchuk EV, Indrieri A, Kim BE, Brown AEX, Puchkova LV, Di Schiavi E, Polishchuk RS. Catalano F, et al. Among authors: brown aex. Traffic. 2024 Jan;25(1):e12920. doi: 10.1111/tra.12920. Epub 2023 Oct 27. Traffic. 2024. PMID: 37886910
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, Nambot S, Alkuraya FS, Hashem MO, Alhashem A, Tabarki B, Alamri AS, Al Safar AH, Bubshait DK, Alahmady NF, Gleeson JG, Abdel-Hamid MS, Lesko N, Ygberg S, Correia SP, Wredenberg A, Alavi S, Seyedhassani SM, Ebrahimi Nasab M, Hussien H, Omar TEI, Harzallah I, Touraine R, Tajsharghi H, Morsy H, Houlden H, Shahrooei M, Ghavideldarestani M, Abdel-Salam GMH, Torella A, Zanobio M, Terrone G, Brunetti-Pierri N, Omrani A, Hentschel J, Lemke JR, Sticht H, Abou Jamra R, Brown AEX, Maroofian R, Platzer K. Rosenhahn E, et al. Among authors: brown aex. Am J Hum Genet. 2022 Aug 4;109(8):1421-1435. doi: 10.1016/j.ajhg.2022.06.008. Epub 2022 Jul 12. Am J Hum Genet. 2022. PMID: 35830857 Free PMC article.
49 results