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CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.
Blocquel D, Sun L, Matuszek Z, Li S, Weber T, Kuhle B, Kooi G, Wei N, Baets J, Pan T, Schimmel P, Yang XL. Blocquel D, et al. Among authors: matuszek z. Proc Natl Acad Sci U S A. 2019 Sep 24;116(39):19440-19448. doi: 10.1073/pnas.1908288116. Epub 2019 Sep 9. Proc Natl Acad Sci U S A. 2019. PMID: 31501329 Free PMC article.
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Sun L, Wei N, Kuhle B, Blocquel D, Novick S, Matuszek Z, Zhou H, He W, Zhang J, Weber T, Horvath R, Latour P, Pan T, Schimmel P, Griffin PR, Yang XL. Sun L, et al. Among authors: matuszek z. Proc Natl Acad Sci U S A. 2021 Mar 30;118(13):e2012898118. doi: 10.1073/pnas.2012898118. Proc Natl Acad Sci U S A. 2021. PMID: 33753480 Free PMC article.
15 results