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4‐Phenylbutyrate restores the functionality of a misfolded mutant low‐density lipoprotein receptor

The FEBS journal, 2007-04, Vol.274 (8), p.1881-1893

2007

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COX16 deficiency causes a novel mitochondrial disorder with lethal infantile presentation and complex IV deficiency

Pathology, 2022-03, Vol.54, p.S71-S72

2022

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Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al

Genetics in medicine, 2024-03, Vol.26 (3), p.101038-101038, Article 101038

Kulseth, Mari Ann

2024

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Effect of mutations in the PCSK9 gene on the cell surface LDL receptors

Human molecular genetics, 2006-05, Vol.15 (9), p.1551-1558

2006

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A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

PloS one, 2015-07, Vol.10 (7), p.e0131637-e0131637

2015

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Berberine decreases PCSK9 expression in HepG2 cells

Atherosclerosis, 2008-12, Vol.201 (2), p.266-273

2008

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A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

Journal of clinical immunology, 2022-02, Vol.42 (2), p.404-420

2022

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Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

PloS one, 2015-08, Vol.10 (8), p.e0136011-e0136011

2015

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A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1

Chest, 2015-05, Vol.147 (5), p.e166-e170

2015

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Retention of Mutant Low Density Lipoprotein Receptor in Endoplasmic Reticulum (ER) Leads to ER Stress

The Journal of biological chemistry, 2006-01, Vol.281 (1), p.468-476

2006

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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

Molecular genetics and metabolism, 2017-08, Vol.121 (4), p.325-328

2017

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Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

European journal of human genetics : EJHG, 2021-06, Vol.29 (6), p.920-929

2021

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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

Human molecular genetics, 2023-01, Vol.32 (4), p.580-594

2023

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Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9

Journal of cellular physiology, 2008-11, Vol.217 (2), p.459-467

2008

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Construction and characterization of a 9-mer phage display pVIII-library with regulated peptide density

Applied microbiology and biotechnology, 2008-10, Vol.80 (5), p.925-936

2008

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Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C

Atherosclerosis, 2010-03, Vol.209 (1), p.163-166

2010

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Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site

Journal of human genetics, 2010-10, Vol.55 (10), p.676-680

2010

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Design and Characterization of Targeted Ultrasound Microbubbles for Diagnostic Use

Ultrasound in medicine & biology, 2011, Vol.37 (1), p.136-150

2011

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Two male sibs with severe micrognathia and a missense variant in MED12

European journal of medical genetics, 2016-08, Vol.59 (8), p.367-372

2016

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Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage

Atherosclerosis, 2009-03, Vol.203 (1), p.161-165

2009

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Cell proliferation, apoptosis and accumulation of lipid droplets in U937-1 cells incubated with eicosapentaenoic acid

Biochemical journal, 1998-12, Vol.336 ( Pt 2) (2), p.451-459

1998

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Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion

The FEBS journal, 2008-08, Vol.275 (16), p.4121-4133

2008

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Analysis of alternatively spliced isoforms of human LDL receptor mRNA

Clinica chimica acta, 2006-11, Vol.373 (1), p.151-157

2006

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4‐Phenylbutyrate restores the functionality of a misfolded mutant low‐density lipoprotein receptor

A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

COX16 deficiency causes a novel mitochondrial disorder with lethal infantile presentation and complex IV deficiency

Correspondence on “Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants” by Vogel et al

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors

A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

Berberine decreases PCSK9 expression in HepG2 cells

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

Correction: A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1

A 19-Year-Old Man With Relapsing Bilateral Pneumothorax, Hemoptysis, and Intrapulmonary Cavitary Lesions Diagnosed With Vascular Ehlers-Danlos Syndrome and a Novel Missense Mutation in COL3A1

Retention of Mutant Low Density Lipoprotein Receptor in Endoplasmic Reticulum (ER) Leads to ER Stress

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder

Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT

Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9

Construction and characterization of a 9-mer phage display pVIII-library with regulated peptide density

Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C

Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site

Design and Characterization of Targeted Ultrasound Microbubbles for Diagnostic Use

Two male sibs with severe micrognathia and a missense variant in MED12

Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage

Cell proliferation, apoptosis and accumulation of lipid droplets in U937-1 cells incubated with eicosapentaenoic acid

Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion

Analysis of alternatively spliced isoforms of human LDL receptor mRNA

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