Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia.

Autor: Spangsberg Petersen US; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Dembic M; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.; Department of Mathematics and Computer Science, University of Southern Denmark, 5230 Odense M, Denmark., Martínez-Pizarro A; Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, 28049 Madrid, Spain., Richard E; Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, 28049 Madrid, Spain., Holm LL; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Havelund JF; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Doktor TK; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Larsen MR; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Færgeman NJ; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark., Desviat LR; Centro de Biología Molecular Severo Ochoa, UAM-CSIC, CEDEM, CIBERER, IdiPaz, Universidad Autónoma de Madrid, 28049 Madrid, Spain., Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, 5230 Odense M, Denmark.

Publikováno v: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2023 Dec 13; Vol. 35 (1), pp. 102101. Date of Electronic Publication: 2023 Dec 13 (Print Publication: 2024).

The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Autor: Hartung AM; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Swensen J; Caris Life Sciences, Phoenix, Arizona, United States of America.; Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America.; ARUP Laboratories, Salt Lake City, Utah, United States of America., Uriz IE; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Lapin M; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Kristjansdottir K; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Petersen US; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Bang JM; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Guerra B; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Andersen HS; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Dobrowolski SF; Department of Pathology, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States of America., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, Utah, United States of America., Yu P; ARUP Laboratories, Salt Lake City, Utah, United States of America., Vaughn C; ARUP Laboratories, Salt Lake City, Utah, United States of America., Calhoun A; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, United States of America., Larsen MR; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark., Dyrskjøt L; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Stevenson DA; Division of Medical Genetics, Stanford University, Stanford, California, United States of America., Andresen BS; Department of Biochemistry and Molecular Biology and The Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark.

Publikováno v: PLoS genetics [PLoS Genet] 2016 May 19; Vol. 12 (5), pp. e1006039. Date of Electronic Publication: 2016 May 19 (Print Publication: 2016).

[Sentinel surveillance of risk of severe reactions associated with specific immunotherapy. A method for quality assurance of procedures with rare, but serious adverse effects].

Autor: Madsen FF; Allergi- og Lungeklinik, Helsingør. fm@allergia.dk, Frølund L, Christensen M, Frost A, Petersen US

Publikováno v: Ugeskrift for laeger [Ugeskr Laeger] 2006 Mar 13; Vol. 168 (11), pp. 1122-4.