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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: amberger a. Amino Acids. 2015 Nov;47(11):2367-76. doi: 10.1007/s00726-015-2024-z. Epub 2015 Jun 17. Amino Acids. 2015. PMID: 26081982
Carnosine Catalyzes the Formation of the Oligo/Polymeric Products of Methylglyoxal.
Weigand T, Singler B, Fleming T, Nawroth P, Klika KD, Thiel C, Baelde H, Garbade SF, Wagner AH, Hecker M, Yard BA, Amberger A, Zschocke J, Schmitt CP, Peters V. Weigand T, et al. Among authors: amberger a. Cell Physiol Biochem. 2018;46(2):713-726. doi: 10.1159/000488727. Epub 2018 Mar 29. Cell Physiol Biochem. 2018. PMID: 29621776 Free article.
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: amberger a. 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.
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, Chitayat D, Dorschner M, Schmitt-Egenolf M, Hale CJ, Hanna D, Hennies HC, Heiss-Kisielewsky I, Lindstrand A, Lundberg P, Mitchell AL, Nickerson DA, Reinstein E, Rohrbach M, Romani N, Schmuth M, Silver R, Taylan F, Vandersteen A, Vandrovcova J, Weerakkody R, Yang M, Pope FM; Molecular Basis of Periodontal EDS Consortium; Byers PH, Zschocke J. Kapferer-Seebacher I, et al. Among authors: amberger a. Am J Hum Genet. 2016 Nov 3;99(5):1005-1014. doi: 10.1016/j.ajhg.2016.08.019. Epub 2016 Oct 13. Am J Hum Genet. 2016. PMID: 27745832 Free PMC article.
95 results