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The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP. Ferreira S, et al. Among authors: garman sc. Mol Genet Metab. 2015 Feb;114(2):248-58. doi: 10.1016/j.ymgme.2014.11.004. Epub 2014 Nov 9. Mol Genet Metab. 2015. PMID: 25468652 Free PMC article.
Catalytic mechanism of human alpha-galactosidase.
Guce AI, Clark NE, Salgado EN, Ivanen DR, Kulminskaya AA, Brumer H 3rd, Garman SC. Guce AI, et al. J Biol Chem. 2010 Feb 5;285(6):3625-3632. doi: 10.1074/jbc.M109.060145. Epub 2009 Nov 25. J Biol Chem. 2010. PMID: 19940122 Free PMC article.
Proteolytic activation of human cathepsin A.
Kolli N, Garman SC. Kolli N, et al. J Biol Chem. 2014 Apr 25;289(17):11592-11600. doi: 10.1074/jbc.M113.524280. Epub 2014 Mar 5. J Biol Chem. 2014. PMID: 24599961 Free PMC article.
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Filoni C, Caciotti A, Carraresi L, Cavicchi C, Parini R, Antuzzi D, Zampetti A, Feriozzi S, Poisetti P, Garman SC, Guerrini R, Zammarchi E, Donati MA, Morrone A. Filoni C, et al. Among authors: garman sc. Biochim Biophys Acta. 2010 Feb;1802(2):247-52. doi: 10.1016/j.bbadis.2009.11.003. Epub 2009 Nov 24. Biochim Biophys Acta. 2010. PMID: 19941952 Free PMC article.
83 results