Publications by authors named "Brage Storstein Andresen"

21Publications

The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

Mol Genet Metab 2016 11 27;119(3):258-269. Epub 2016 Aug 27.

Department of Biochemistry and Molecular Biology, the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense M, Denmark. Electronic address:

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November 2016

A synonymous polymorphic variation in ACADM exon 11 affects splicing efficiency and may affect fatty acid oxidation.

Mol Genet Metab 2013 Sep-Oct;110(1-2):122-8. Epub 2013 Jun 12.

Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense M, Denmark.

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March 2014

Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11.

Mol Genet Metab 2012 Aug 29;106(4):403-11. Epub 2012 May 29.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zürich, Switzerland.

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August 2012

MCAD deficiency in Denmark.

Mol Genet Metab 2012 Jun 4;106(2):175-88. Epub 2012 Apr 4.

Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark.

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June 2012

CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay.

Sci Rep 2012 4;2:209. Epub 2012 Jan 4.

Division of Neurogenetics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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April 2013

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site.

Hum Mutat 2011 Feb 25;32(2):220-30. Epub 2011 Jan 25.

Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense M, Denmark.

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February 2011

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

J Inherit Metab Dis 2010 Jun 18;33(3):247-60. Epub 2010 May 18.

Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby, Brendstrupgaardsvej, Aarhus N, Denmark.

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June 2010