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Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine ß-synthase p.R336C.
Mendes, Marisa I S; Smith, Desirée E C; Vicente, João B; Tavares De Almeida, Isabel; Ben-Omran, Tawfeg; Salomons, Gajja S; Rivera, Isabel A; Leandro, Paula; Blom, Henk J.
Affiliation
  • Mendes MI; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and.
  • Smith DE; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and.
  • Vicente JB; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon 1649-003, Portugal.
  • Tavares De Almeida I; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon 1649-003, Portugal.
  • Ben-Omran T; Section of Clinical and Metabolic Genetics, Department of Pediatric, Hamad Medical Corporation, Doha, Qatar.
  • Salomons GS; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and.
  • Rivera IA; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon 1649-003, Portugal.
  • Leandro P; Metabolism and Genetics Group, Research Institute for Medicines (iMed.ULisboa), Faculty of Pharmacy, Department of Biochemistry and Human Biology, Faculty of Pharmacy, University of Lisbon, Lisbon 1649-003, Portugal.
  • Blom HJ; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam 1081 HV, The Netherlands and henk.blom@uniklinik-freiburg.de.
Hum Mol Genet ; 24(25): 7339-48, 2015 Dec 20.
Article in En | MEDLINE | ID: mdl-26464485
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Full text: 1 Database: MEDLINE Main subject: Cystathionine beta-Synthase Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2015 Type: Article
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Cystathionine beta-Synthase Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2015 Type: Article