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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: pujol 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.
PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome.
Schlüter A, Real-Chicharro A, Gabaldón T, Sánchez-Jiménez F, Pujol A. Schlüter A, et al. Among authors: pujol a. Nucleic Acids Res. 2010 Jan;38(Database issue):D800-5. doi: 10.1093/nar/gkp935. Epub 2009 Nov 5. Nucleic Acids Res. 2010. PMID: 19892824 Free PMC article.
Deregulation of purine metabolism in Alzheimer's disease.
Ansoleaga B, Jové M, Schlüter A, Garcia-Esparcia P, Moreno J, Pujol A, Pamplona R, Portero-Otín M, Ferrer I. Ansoleaga B, et al. Among authors: pujol a. Neurobiol Aging. 2015 Jan;36(1):68-80. doi: 10.1016/j.neurobiolaging.2014.08.004. Epub 2014 Aug 8. Neurobiol Aging. 2015. PMID: 25311278 Free article.
491 results