Janet Koster

Janet Koster

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Janet Koster

Janet Koster

Publications by authors named "Janet Koster"

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Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.

Biochim Biophys Acta Biomembr 2019 10 24;1861(10):182991. Epub 2019 May 24.

Laboratory of Lipid Biochemistry and Protein Interactions, Department of Cellular and Molecular Medicine, KU Leuven - University of Leuven, Herestraat 49, box 601, B-3000 Leuven, Belgium. Electronic address:

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http://dx.doi.org/10.1016/j.bbamem.2019.05.013DOI Listing
October 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

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http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Biochim Biophys Acta Mol Basis Dis 2018 Mar 26;1864(3):952-958. Epub 2017 Dec 26.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2017.12.032DOI Listing
March 2018

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism.

J Med Genet 2017 05 31;54(5):330-337. Epub 2016 Oct 31.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2016-104132DOI Listing
May 2017

Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies.

Methods Mol Biol 2017 ;1595:63-67

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/978-1-4939-6937-1_7DOI Listing
May 2017

Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.

Histochem Cell Biol 2017 Apr 24;147(4):537-541. Epub 2016 Dec 24.

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00418-016-1532-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359384PMC
April 2017

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

Brain 2014 Nov 14;137(Pt 11):2903-8. Epub 2014 Aug 14.

1 Murdoch Childrens Research Institute, Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, Vic 3052, Australia 3 Department of Paediatrics, University of Melbourne, Parkville, Vic 3052, Australia

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http://dx.doi.org/10.1093/brain/awu216DOI Listing
November 2014

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene.

Am J Med Genet A 2014 Apr 23;164A(4):907-14. Epub 2014 Jan 23.

Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK.

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http://dx.doi.org/10.1002/ajmg.a.36368DOI Listing
April 2014

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient.

Biochim Biophys Acta 2013 Sep 10;1831(9):1467-74. Epub 2013 Jul 10.

Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, Faculty of Pharmacy, University of Lisbon, Av. Prof. Gama Pinto, 1649-003 Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.bbalip.2013.06.007DOI Listing
September 2013

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

Biochim Biophys Acta 2013 Jun 24;1832(6):773-9. Epub 2013 Feb 24.

Metabolism and Genetics Group, Research Institute for Medicines and Pharmaceutical Sciences, iMed.UL, Faculty of Pharmacy, University of Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.bbadis.2013.02.012DOI Listing
June 2013

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

J Med Genet 2012 May;49(5):307-13

Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-100778DOI Listing
May 2012

The matilda effect in science: awards and prizes in the US, 1990s and 2000s.

Soc Stud Sci 2012 Apr;42(2):307-20

Department of Sociology, Southern Methodist University, Dallas, TX 75275-0192, USA.

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http://dx.doi.org/10.1177/0306312711435830DOI Listing
April 2012

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.

Hum Mutat 2011 Jan;32(1):59-69

Academic Medical Centre at the University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.21388DOI Listing
January 2011

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Hum Mutat 2009 Jan;30(1):93-8

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20833DOI Listing
January 2009

HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation.

Blood 2008 Nov 6;112(9):3563-73. Epub 2008 Aug 6.

Department of General Pediatrics, University Medical Centre, Utrecht, The Netherlands.

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http://dx.doi.org/10.1182/blood-2008-03-144667DOI Listing
November 2008

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency.

Hum Mutat 2007 Sep;28(9):904-12

Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20535DOI Listing
September 2007

A lethal defect of mitochondrial and peroxisomal fission.

N Engl J Med 2007 Apr;356(17):1736-41

Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1056/NEJMoa064436DOI Listing
April 2007

Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency.

Hum Mutat 2006 Aug;27(8):796-802

Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.20361DOI Listing
August 2006

Phosphomevalonate kinase is a cytosolic protein in humans.

J Lipid Res 2004 Apr 16;45(4):697-705. Epub 2004 Jan 16.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://www.jlr.org/lookup/doi/10.1194/jlr.M300373-JLR200
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http://dx.doi.org/10.1194/jlr.M300373-JLR200DOI Listing
April 2004

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol.

Mol Genet Metab 2004 Mar;81(3):216-24

Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2003.12.001DOI Listing
March 2004

Mevalonate kinase is a cytosolic enzyme in humans.

J Cell Sci 2004 Feb;117(Pt 4):631-9

Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Amsterdam.

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http://jcs.biologists.org/cgi/doi/10.1242/jcs.00910
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http://dx.doi.org/10.1242/jcs.00910DOI Listing
February 2004