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List of works by Brage Storstein Andresen

2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation

scientific article published on 22 December 2004

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

scientific article

A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

scientific article published on 2 April 2013

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein

scientific article published in May 1997

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

scientific article

A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1

scientific article published in Scientific Reports

A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.

scientific article

A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

scientific article published on January 2001

A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

scientific article

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

scientific article published on 12 June 2013

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

scientific article published on 13 March 2015

Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.

scientific article

Amino acid polymorphism (Gly209Ser) in the ACADS gene

article

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

scientific article published on 2 November 2017

Analysis of the Epstein-Barr virus (EBV) latent membrane protein 1 (LMP-1) gene and promoter in Hodgkin's disease isolates: selection against EBV variants with mutations in the LMP-1 promoter ATF-1/CREB-1 binding site

scientific article published on October 2000

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

scientific article published on 21 June 2012

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency

scientific article published in January 2005

Blocking of an intronic splicing silencer completely rescues IKBKAP exon 20 splicing in familial dysautonomia patient cells

scientific article published on 01 September 2018

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia

scientific article published in January 1994

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain Acyl-CoA dehydrogenase deficiency

article

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.

scientific article

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

scientific article

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

scientific article

Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation

scientific article published on August 1999

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene

scientific article published in April 1996

Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.

scientific article

Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells.

scientific article

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

scientific article published in January 2005

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 May 1999

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

scientific article

Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency

scientific article

Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes

scientific article published on 10 October 2019

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

scientific article

Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants

scientific article

Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase

scientific article published on June 1996

Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells

scientific article published on October 1992

Features of 5'-splice-site efficiency derived from disease-causing mutations and comparative genomics

scientific article published on 21 November 2007

Functional testing of keratin 14 mutant proteins associated with the three major subtypes of epidermolysis bullosa simplex

scientific article published on 01 August 2003

Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy

scientific article published on 29 October 2007

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships

scientific article published on February 2004

Global identification of hnRNP A1 binding sites for SSO-based splicing modulation.

scientific article

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

article

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G>C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging fro

Identification of SRSF10 as a regulator of SMN2 ISS-N1

scientific article published on 10 December 2020

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, to

article

Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans

scientific journal article

Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

scientific article published in February 1999

Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption

scientific article

Impaired Folding and Subunit Assembly as Disease Mechanism: The Example of Medium-Chain acyl-CoA Dehydrogenase Deficiency ⬇️

scientific article published on January 1, 1998

Internalization, lysosomal degradation and new synthesis of surface membrane CD4 in phorbol ester-activated T-lymphocytes and U-937 cells

scientific article published on July 1992

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.

scientific article

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

scientific article

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and [...]

scientific article

Late-onset form of beta-electron transfer flavoprotein deficiency.

scientific article published in April 2003

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

scientific article published in January 2004

MCAD deficiency in Denmark.

scientific article published on 4 April 2012

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA

article

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

scientific article

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

scientific article

Mitochondrial fatty acid oxidation defects--remaining challenges.

scientific article published on 7 October 2008

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

scientific article

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele

scientific article published on January 1994

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

scientific article (publication date: September 2001)

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

scientific article published on January 2003

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene

scientific article

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype

scientific article published in July 1999

Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

scientific article published on 12 October 2014

Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies

scientific article published on 13 December 2011

Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease

scientific article published on 22 October 2018

Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.

scientific article published on 22 September 2011

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

scientific article

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations

scientific article

Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.

scientific article

Protein misfolding and degradation in genetic diseases.

scientific article

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

scientific article published on 23 August 2016

Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).

scientific article published on 25 June 2011

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

scientific article published on 25 January 2011

Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer

scientific article published on 18 January 2007

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

scientific article

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

article

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

scientific article published on 15 April 2015

Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

scientific article published on 05 December 2016

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

scientific article

Structural organization of the human short-chain acyl-CoA dehydrogenase gene ⬇️

scientific article published on December 1, 1997

Surface membrane CD4 turnover in phorbol ester stimulated T-lymphocytes

scientific article published on 01 December 1990

TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping

scientific article published on 17 August 2006

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

scientific article

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

scientific article

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

scientific article

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

scientific article

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

scientific article published in October 2004

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

scientific article published on April 2010

The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype?

scientific article

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency

scientific article published on 01 January 1996

The phenylalanine hydroxylase c.30C>G synonymous variation (p.G10G) creates a common exonic splicing silencer

scientific article published on 14 April 2010

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.

scientific article

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders

scientific article

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

scientific article published on 01 January 1997

Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.

scientific article

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

scientific article published on 20 November 2010

VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria

scientific article published on 16 May 2016

VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis

scientific article published on 20 February 2006

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

scientific article published on 20 July 2006

Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset

scientific article published on 01 April 1998

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: monitoring of treatment by carnitine/acylcarnitine analysis in blood spots

scientific article published on 01 April 2000

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