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Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.
Galatolo D, Kuo ME, Mullen P, Meyer-Schuman R, Doccini S, Battini R, Lieto M, Tessa A, Filla A, Francklyn C, Antonellis A, Santorelli FM. Galatolo D, et al. Among authors: doccini s. Hum Mutat. 2020 Jul;41(7):1232-1237. doi: 10.1002/humu.24024. Epub 2020 Apr 29. Hum Mutat. 2020. PMID: 32333447 Free PMC article.
Dolichol-phosphate mannose synthase depletion in zebrafish leads to dystrophic muscle with hypoglycosylated α-dystroglycan.
Marchese M, Pappalardo A, Baldacci J, Verri T, Doccini S, Cassandrini D, Bruno C, Fiorillo C, Garcia-Gil M, Bertini E, Pitto L, Santorelli FM. Marchese M, et al. Among authors: doccini s. Biochem Biophys Res Commun. 2016 Aug 12;477(1):137-143. doi: 10.1016/j.bbrc.2016.06.033. Epub 2016 Jun 10. Biochem Biophys Res Commun. 2016. PMID: 27291147
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