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Carnosine metabolism in diabetes is altered by reactive metabolites.
Peters V, Lanthaler B, Amberger A, Fleming T, Forsberg E, Hecker M, Wagner AH, Yue WW, Hoffmann GF, Nawroth P, Zschocke J, Schmitt CP. Peters V, et al. Among authors: yue ww. Amino Acids. 2015 Nov;47(11):2367-76. doi: 10.1007/s00726-015-2024-z. Epub 2015 Jun 17. Amino Acids. 2015. PMID: 26081982
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: yue ww. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
Structural basis of fumarate hydratase deficiency.
Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U. Picaud S, et al. Among authors: yue ww. J Inherit Metab Dis. 2011 Jun;34(3):671-6. doi: 10.1007/s10545-011-9294-8. Epub 2011 Mar 29. J Inherit Metab Dis. 2011. PMID: 21445611 Free PMC article.
151 results