S. Kemp PhD publications

foto

Publications PhD S. Kemp

Position
Associate Professor
Main activities
Education, Research
Specialisation
Biochemistry
Focus of research

Identical gene mutations should lead to specific phenotypes; however, this simplistic view does not adequately address the widely varying phenotypes that are commonly observed in many inborn errors of metabolism. Indeed, even identical mutations can lead to widely variable clinical phenotypes, which suggests that additional factors modify disease manifestations.

This situation is clearly exemplified by X-linked adrenoleukodystrophy (ALD), which is the most common leukodystrophy, but also one of the most puzzling inborn errors of metabolism of the central nervous system.

All ALD patients have a mutation in a single gene (ABCD1) and accumulate very-long-chain fatty acids (VLCFA). The disease, however, is characterized by a striking and unpredictable variation in clinical outcomes among men, ranging from adrenal insufficiency to rapidly progressive and fatal cerebral demyelination (cerebral ALD). In adulthood, virtually all men, and 80% of women, with ALD develop progressive spinal cord disease (that is, adrenomyeloneuropathy (AMN)). In the absence of a genotype–phenotype correlation, predicting the disease course is impossible, even within individual families.

Treatment options are limited. For boys with early stage cerebral ALD, a bone-marrow transplant may be curative. However, for AMN, which represents 85% of ALD cases (males and females), no disease modifying therapy is available. The major objective of our research is to resolve the role of VLCFA metabolism in the pathogenesis of ALD and use this knowledge for the development of a rationally based therapy for ALD.

 

 

 

Amsterdam UMC Research Institutes
AMC departments
All publications

2020

  • Barendsen Rinse W., Dijkstra Inge M. E., Visser Wouter F., Alders Mariëlle, Bliek Jet, Boelen Anita, Bouva Marelle J., van der Crabben Saskia N., Elsinghorst Ellen, van Gorp Ankie G. M., Heijboer Annemieke C., Jansen Mandy, Jaspers Yorrick R. J., van Lenthe Henk, Metgod Ingrid, Mooij Christiaan F., van der Sluijs Elise H. C., van Trotsenburg A. S. Paul, Verschoof-Puite Rendelien K., Vaz Frédéric M., Waterham Hans R., Wijburg Frits A., Engelen Marc, Dekkers Eugènie, Kemp Stephan Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor Frontiers in cell and developmental biology 2020;8 [PubMed]
  • Jaspers Yorrick R. J., Ferdinandusse Sacha, Dijkstra Inge M. E., Barendsen Rinse Willem, van Lenthe Henk, Kulik Wim, Engelen Marc, Goorden Susan M. I., Vaz Frédéric M., Kemp Stephan Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders Frontiers in cell and developmental biology 2020;8 [PubMed]
  • Montoro Roberto, Heine Vivi M., Kemp Stephan, Engelen Marc Evolution of adrenoleukodystrophy model systems Journal of inherited metabolic disease 2020 [PubMed]
  • Mallack Eric J., Turk Bela R., Yan Helena, Price Carrie, Demetres Michelle, Moser Ann B., Becker Catherine, Hollandsworth Kim, Adang Laura, Vanderver Adeline, van Haren Keith, Ruzhnikov Maura, Kurtzberg Joanne, Maegawa Gustavo, Orchard Paul J., Lund Troy C., Raymond Gerald V., Regelmann Molly, Orsini Joseph J., Seeger Elisa, Kemp Stephan, Eichler Florian, Fatemi Ali MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines Journal of inherited metabolic disease 2020 [PubMed]
  • Richmond Phillip A., van der Kloet Frans, Vaz Frederic M., Lin David, Uzozie Anuli, Graham Emma, Kobor Michael, Mostafavi Sara, Moerland Perry D., Lange Philipp F., van Kampen Antoine H. C., Wasserman Wyeth W., Engelen Marc, Kemp Stephan, van Karnebeek Clara D. M. Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy Frontiers in cell and developmental biology 2020;8 [PubMed]
  • Kemp S A, Collier D A, Datir R, Ferreira Iatm, Gayed S, Jahun A, Hosmillo M, Rees-Spear C, Mlcochova P, Lumb Ines Ushiro, Roberts David J, Chandra Anita, Temperton N, Sharrocks K, Blane E, Briggs Jag, van Gils M J, Smith Kgc, Bradley J R, Smith C, Doffinger R, Ceron-Gutierrez L, Barcenas-Morales G, Pollock D D, Goldstein R A, Smielewska A, Skittrall J P, Gouliouris T, Goodfellow I G, Gkrania-Klotsas E, Illingworth Cjr, McCoy L E, Gupta R K Neutralising antibodies in Spike mediated SARS-CoV-2 adaptation medRxiv 2020 [PubMed]
  • van Ballegoij Wouter J. C., van de Stadt Stephanie I. W., Huffnagel Irene C., Kemp Stephan, Willemse Eline A. J., Teunissen Charlotte E., Engelen Marc Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy Annals of clinical and translational neurology 2020;7 (11):2127-2136 [PubMed]
  • van Ballegoij Wouter J. C., van de Stadt Stephanie I. W., Huffnagel Irene C., Kemp Stephan, van der Knaap Marjo S., Engelen Marc Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy Frontiers in physiology 2020;11 [PubMed]
  • Devarajan S., Meurer M., van Roermund C. W. T., Chen X., Hettema E. H., Kemp S., Knop M., Williams C. Proteasome-dependent protein quality control of the peroxisomal membrane protein Pxa1p BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES 2020;1862 (9) [PubMed]
  • van de Stadt Stephanie I. W., van Ballegoij Wouter J. C., Labounek René, Huffnagel Irene C., Kemp Stephan, Nestrasil Igor, Engelen Marc Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy Journal of inherited metabolic disease 2020;43 (4):852-860 [PubMed]
  • Zierfuss Bettina, Weinhofer Isabelle, Buda Agnieszka, Popitsch Niko, Hess Lena, Moos Verena, Hametner Simon, Kemp Stephan, Köhler Wolfgang, Forss-Petter Sonja, Seiser Christian, Berger Johannes Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS-275 Annals of clinical and translational neurology 2020;7 (11):2161-2177 [PubMed]
  • van Karnebeek Clara D. M., Richmond Phillip A., van der Kloet Frans, Wasserman Wyeth W., Engelen Marc, Kemp Stephan The variability conundrum in neurometabolic degenerative diseases Molecular genetics and metabolism 2020;131 (4):367-369 [PubMed]
  • Zierfuss Bettina, Weinhofer Isabelle, Kühl J. rn-Sven, Köhler Wolfgang, Bley Annette, Zauner Katharina, Binder Johannes, Martinović Ksenija, Seiser Christian, Hertzberg Christoph, Kemp Stephan, Egger Gerda, Leitner Gerda, Bauer Jan, Wiesinger Christoph, Kunze Markus, Forss-Petter Sonja, Berger Johannes Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy Annals of clinical and translational neurology 2020;7 (5):639-652 [PubMed]

2019

  • Huffnagel Irene C., Dijkgraaf Marcel G. W., Janssens Georges E., van Weeghel Michel, van Geel Björn M., Poll-The Bwee Tien, Kemp Stephan, Engelen Marc Disease progression in women with X-linked adrenoleukodystrophy is slow Orphanet journal of rare diseases 2019;14 (1) [PubMed]
  • Gong Yi, Berenson Anna, Laheji Fiza, Gao Guangping, Wang Dan, Ng Carrie, Volak Adrienn, Kok Rene, Kreouzis Vasileios, Dijkstra Inge M., Kemp Stephan, Maguire Casey A., Eichler Florian Intrathecal Adeno-Associated Viral Vector-Mediated Gene Delivery for Adrenomyeloneuropathy Human gene therapy 2019;30 (5):544-555 [PubMed]
  • Huffnagel Irene C. Life unexpected: Unraveling the natural history of adrenoleukodystrophy 2019. 232p. ISBN 9789463612586. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll-The B. T. , Kemp S.; Co-supervisor: Engelen M.)
  • Huffnagel Irene C, van Ballegoij Wouter J C, Vos Johanna M B W, Kemp Stephan, Caan Matthan W A, Engelen Marc Longitudinal diffusion MRI as surrogate outcome measure for myelopathy in adrenoleukodystrophy Neurology 2019;93 (23):e2133-e2143 [PubMed]
  • Costello Joseph L., Zalckvar Einat, Kemp Stephan, di Cara Francesca, Kim Peter K., Linka Nicole, van der Klei Ida J. Peroxisomes: new insights into protein sorting, dynamics, quality control, signalling and roles in health and disease Histochemistry and cell biology 2019;151 (4):283-289 [PubMed]
  • Huffnagel Irene C., van Ballegoij Wouter J. C., van Geel Björn M., Vos Johanna M. B. W., Kemp Stephan, Engelen Marc Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness Brain 2019;142 (2):334-343 [PubMed]
  • Huffnagel Irene C., Laheji Fiza K., Aziz-Bose Razina, Tritos Nicholas A., Marino Rose, Linthorst Gabor E., Kemp Stephan, Engelen Marc, Eichler Florian The natural history of adrenal insufficiency in X-linked adrenoleukodystrophy: An international collaboration Journal of clinical endocrinology and metabolism 2019;104 (1):118-126 [PubMed]
  • Wanders Ronald J. A., Vaz Frederic M., Ferdinandusse Sacha, van Kuilenburg André B. P., Kemp Stephan, van Karnebeek Clara D., Waterham Hans R., Houtkooper Riekelt H. Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era Journal of inherited metabolic disease 2019;42 (2):197-208 [PubMed]

2018

  • Engelen Marc, Kemp Stephan Een andere hielprik voor jongens dan voor meisjes?in: Riekelt Houtkooper, editors. De hielprik. Stichting Biowetenschappen en Maatschappij; 2018. p. -
  • van de Beek Malu-Clair Lipotoxicity in adrenoleukodystrophy: Size matters! 2018. 161p. ISBN 9789462997578. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Wanders R. J. A., Wijburg F. A.; Co-supervisors: Kemp S., Poll The B. T.)
  • Morita Masashi, Matsumoto Shun, Sato Airi, Inoue Kengo, Kostsin Dzmitry G, Yamazaki Kozue, Kawaguchi Kosuke, Shimozawa Nobuyuki, Kemp Stephan, Wanders Ronald J, Kojima Hirotatsu, Okabe Takayoshi, Imanaka Tsuneo Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy JIMD reports 2018;44:23-31 [PubMed]

2017

  • Schackmann Martin J. A. Biochemical and cell biological aspects of X-linked adrenoleukodystrophy 2017. 127p. ISBN 9789462956179. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Kemp S.)
  • Huffnagel Irene C., van de Beek Malu-Clair, Showers Amanda L., Orsini Joseph J., Klouwer Femke C. C., Dijkstra Inge M. E., Schielen Peter C., van Lenthe Henk, Wanders Ronald J. A., Vaz Frédéric M., Morrissey Mark A., Engelen Marc, Kemp Stephan Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy Molecular genetics and metabolism 2017;122 (4):209-215 [PubMed]
  • van de Beek Malu-Clair, Ofman Rob, Dijkstra Inge, Wijburg Frits, Engelen Marc, Wanders Ronald, Kemp Stephan Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2017;1863 (9):2255-2265 [PubMed]
  • van de Beek Malu-Clair, Dijkstra Inge M. E., Kemp Stephan Method for Measurement of Peroxisomal Very Long-Chain Fatty Acid Beta-Oxidation and De Novo C26:0 Synthesis Activity in Living Cells Using Stable-Isotope Labeled Docosanoic Acid Methods in molecular biology (Clifton, N.J.) 2017;1595:45-54 [PubMed]
  • Alexander Stephen Ph, Kelly Eamonn, Marrion Neil V., Peters John A., Faccenda Elena, Harding Simon D., Pawson Adam J., Sharman Joanna L., Southan Christopher, Buneman O. Peter, Cidlowski John A., Christopoulos Arthur, Davenport Anthony P., Fabbro Doriano, Spedding Michael, Striessnig Jörg, Davies Jamie A., Abbracchio M.-P., Aldrich R., Al-Hosaini K., Arumugam T. V., Attali B., Bäck M., Barnes N. M., Bathgate R., Beart P. M., Becirovic E., Bettler B., Biel M., Birdsall N. J., Blaho V., Boison D., Bräuner-Osborne H., Bröer S., Bryant C., Burnstock G., Calo G., Catterall W. A., Ceruti S., Chan S. L., Chandy K. G., Chazot P., Chiang N., Chun J. J., Chung J.-J., Clapham D. E., Clapp L., Hamann Jörg, Kemp Stephan, Michel M. C. The concise guide to pharmacology 2017/18: Overview British journal of pharmacology 2017;174 (Suppl. 1):S1-S16 [PubMed]

2016

  • Kemp Stephan, Huffnagel Irene C., Linthorst Gabor E., Wanders Ronald J., Engelen Marc Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history Nature reviews. Endocrinology 2016;12 (10):606-615 [PubMed]
  • Potze L., Di Franco S., Grandela C., Pras-Raves M. L., Picavet D. I., van Veen H. A., van Lenthe H., Mullauer F. B., van der Wel N. N., Luyf A., van Kampen A. H. C., Kemp S., Everts V., Kessler J. H., Vaz F. M., Medema J. P. Betulinic acid induces a novel cell death pathway that depends on cardiolipin modification Oncogene 2016;35 (4):427-437 [PubMed]
  • van de Beek Malu-Clair, Dijkstra Inge M. E., van Lenthe Henk, Ofman Rob, Goldhaber-Pasillas Dalia, Schauer Nicolas, Schackmann Martin, Engelen-Lee Joo-Yeon, Vaz Frédéric M., Kulik Wim, Wanders Ronald J. A., Engelen Marc, Kemp Stephan C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man PLoS ONE 2016;11 (4):e0154597 [PubMed]
  • van Engen Catherine E., Ofman Rob, Dijkstra Inge M. E., van Goethem Tessa Jacobs, Verheij Eveline, Varin Jennifer, Vidaud Michel, Wanders Ronald J. A., Aubourg Patrick, Kemp Stephan, Barbier Mathieu CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2016;1862 (10):1861-1870 [PubMed]
  • Kemp S., Allan R. S., Patanjali N., Barnett M. H., Jonker B. P. Neurological deficit following stereotactic radiosurgery for trigeminal neuralgia Journal of clinical neuroscience 2016;34:229-231 [PubMed]
  • Schackmann Martin J. A., Ofman Rob, van Geel Björn M., Dijkstra Inge M. E., van Engelen Klaartje, Wanders Ronald J. A., Engelen Marc, Kemp Stephan Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics Molecular genetics and metabolism 2016;118 (2):123-127 [PubMed]
  • van Geel Björn M., Engelen Marc, Kemp Stephan X-linked Adrenoleukodystrophyin: Carla E.M. Hollak, Robin Lachmann, editors. Inherited Metabolic Disease in Adults: A Clinical Guide. Oxford University Press; 2016. p. 387-393, ISBN 9780199972135

2015

  • Jackson K. A., Glyn-Jones S., Batt M. E., Arden N. K., Newton J. L., Allen N., Ao Y.-F., Barker K., Beasley I., Bennell K., Botha N., Doherty M., Cowie C., Hawkes R., Jaques R., Kemp S., Lohmander S., Mackinnon A.-L., Miller S., Palmer A., Rossiter M., Roos E., Yoshimura N. Assessing risk factors for early hip osteoarthritis in activity-related hip pain: a Delphi study BMJ open 2015;5 (9):e007609 [PubMed]
  • Schackmann Martin J. A., Ofman Rob, Dijkstra Inge M. E., Wanders Ronald J. A., Kemp Stephan Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2015;1851 (2):231-237 [PubMed]
  • van Geel Björn M., Poll-The Bwee Tien, Verrips Aad, Boelens Jaap-Jan, Kemp Stephan, Engelen Marc Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study Journal of inherited metabolic disease 2015;38 (2):359-361 [PubMed]
  • Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy Brain 2015;138 (2):e326 [PubMed]

2014

  • Kemp Stephan Molecular Genetics of X-linked Adrenoleukodystrophyin: N. N., editors. Encyclopedia of life sciences (eLS). Chichester: John Wiley & Sons Ltd; 2014. p. a0024277
  • Pratley Richard E., Nauck Michael A., Barnett Anthony H., Feinglos Mark N., Ovalle Fernando, Harman-Boehm Illana, Ye June, Scott Rhona, Johnson Susan, Stewart Murray, Rosenstock Julio, Adamson K., Ahmann A., Ahn C. W., Ajani D., Akright L., Alwine L., Alzohaili O., Andrawis N., Arbañil Huaman H., Arora S., Bailey T., Barnett A., Baron M., Barreda Caceres L., Barrera J., Berg J., Bertenshaw R., Bode B., Bolton D., Brito M., Brock S., Brockmyre A., Broker R., Brusco O., Buynak R., Canadas-Zizzias R., Canas G., Capo J., Castillo Gamarra M., Cathcart H., Catindig E. A., Chilka S., Cho Y. W., Choi D. S., Chuck L., Cooper M., Corder C., Hoekstra J., Kemp S. Once-weekly albiglutide versus once-daily liraglutide in patients with type 2 diabetes inadequately controlled on oral drugs (HARMONY 7): a randomised, open-label, multicentre, non-inferiority phase 3 study Lancet. Diabetes and endocrinology 2014;2 (4):289-297 [PubMed]
  • Engelen Marc, Barbier Mathieu, Dijkstra Inge M. E., Schür Remmelt, de Bie Rob M. A., Verhamme Camiel, Dijkgraaf Marcel G. W., Aubourg Patrick A., Wanders Ronald J. A., van Geel Bjorn M., de Visser Marianne, Poll-The Bwee T., Kemp Stephan X-linked adrenoleukodystrophy in women: a cross-sectional cohort study Brain 2014;137 (Part 3):693-706 [PubMed]
  • Engelen Marc, Kemp Stephan, Poll-The Bwee-Tien X-linked adrenoleukodystrophy: pathogenesis and treatment Current neurology and neuroscience reports 2014;14 (10):486 [PubMed]

2013

  • Engelen Marc, Ofman Rob, Dijkgraaf Marcel, van Geel Bjorn, de Visser Marianne, Wanders Ronald, Poll-The Bwee Tien, Kemp Stephan Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit" Clinical neurology and neurosurgery 2013;115 (11):2401-2402 [PubMed]
  • Barge-Schaapveld Daniela Q. C. M., Ofman Rob, Knegt Alida C., Alders Mariëlle, Höhne Wolfgang, Kemp Stephan, Hennekam Raoul C. M. Intellectual disability and hemizygous GPD2 mutation American journal of medical genetics. Part A 2013;161A (5):1044-1050 [PubMed]

2012

  • Ebberink Merel S., Koster Janet, Visser Gepke, van Spronsen Francjan, Stolte-Dijkstra Irene, Smit G. Peter A., Fock Johanna M., Kemp Stephan, Wanders Ronald J. A., Waterham Hans R. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11 beta gene Journal of medical genetics 2012;49 (5):307-313 [PubMed]
  • Engelen Marc, Tran Luc, Ofman Rob, Brennecke Josephine, Moser Ann B., Dijkstra Inge M. E., Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Bezafibrate for X-Linked Adrenoleukodystrophy PLoS ONE 2012;7 (7):e41013 [PubMed]
  • Engelen Marc, Schackmann Martin J. A., Ofman Rob, Sanders Robert-Jan, Dijkstra Inge M. E., Houten Sander M., Fourcade Stéphane, Pujol Aurora, Poll-The Bwee Tien, Wanders Ronald J. A., Kemp Stephan Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation Journal of inherited metabolic disease 2012;35 (6):1137-1145 [PubMed]
  • Krasemann Ernst, Kemp Stephan, Gal Andreas Clinical utility gene card for: Adrenoleukodystrophy European journal of human genetics 2012;20 (3):Gene card 1 [PubMed]
  • Engelen Marc Translational studies in X-linked adrenoleukodystrophy 2012. 135p. ISBN 9789461914743. [UvA Dissertations Online] University of Amsterdam. (Supervisors: Poll-The B. T., de Visser M.; Co-supervisors: Kemp S., van Geel B. M.)
  • Kemp Stephan, Berger Johannes, Aubourg Patrick X-linked adrenoleukodystrophy: Clinical, metabolic, genetic and pathophysiological aspects BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2012;1822 (9):1465-1474 [PubMed]
  • Amorosi Cyntia Anabel, Myskóva Helena, Monti Mariela Roxana, Argaraña Carlos Enrique, Morita Masashi, Kemp Stephan, Dodelson de Kremer Raquel, Dvoráková Lenka, Oller de Ramírez Ana María X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients PLoS ONE 2012;7 (12):e52635 [PubMed]
  • Engelen Marc, Kemp Stephan, de Visser Marianne, van Geel Björn M., Wanders Ronald J. A., Aubourg Patrick, Poll-The Bwee Tien X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management: Clinical presentation and guidelines for diagnosis, follow-up and management Orphanet journal of rare diseases 2012;7 (1) [PubMed]

2011

  • Zhang Xuebin, de Marcos Lousa Carine, Schutte-Lensink Nellie, Ofman Rob, Wanders Ronald J., Baldwin Stephen A., Baker Alison, Kemp Stephan, Theodoulou Frederica L. Conservation of targeting but divergence in function and quality control of peroxisomal ABC transporters: an analysis using cross-kingdom expression Biochemical journal 2011;436 (3):547-557 [PubMed]
  • Wanders Ronald J. A., Komen Jasper, Kemp Stephan Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans FEBS journal 2011;278 (2):182-194 [PubMed]
  • Kemp Stephan, Theodoulou Frederica L., Wanders Ronald J. A. Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance British journal of pharmacology 2011;164 (7):1753-1766 [PubMed]
  • Engelen Marc, van der Kooi Anneke J., Kemp Stephan, Wanders Ronald J. A., Sistermans Erik A., Waterham Hans R., Koelman Johannes T. M., van Geel Björn M., de Visser Marianne X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy Journal of the peripheral nervous system 2011;16 (4):353-355 [PubMed]

2010

  • Kemp Stephan, Wanders Ronald Biochemical aspects of x-linked adrenoleukodystrophy Brain pathology (Zurich, Switzerland) 2010;20 (4):831-837 [PubMed]
  • Gautron A. S., Giquel B., Beaudoin L., Autrusseau E., Speak A., Platt F., Kemp S., Pujol A., Aubourg P., Lehuen A. Invariant NKT cells in adrenoleukodystrophy patients and mice Journal of neuroimmunology 2010;229 (1-2):204-211 [PubMed]
  • Engelen Marc, Ofman Rob, Dijkgraaf Marcel G. W., Hijzen Michiel, van der Wardt Lucinda A., van Geel Bjorn M., de Visser Marianne, Wanders Ronald J. A., Poll-The Bwee Tien, Kemp Stephan Lovastatin in X-Linked Adrenoleukodystrophy New England journal of medicine 2010;362 (3):276-277 [PubMed]
  • Wanders R. J. A., Ferdinandusse S., Brites P., Kemp S. Peroxisomes, lipid metabolism and lipotoxicity BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2010;1801 (3):272-280 [PubMed]
  • Ofman Rob, Dijkstra Inge M. E., van Roermund Carlo W. T., Burger Nena, Turkenburg Marjolein, van Cruchten Arno, van Engen Catherine E., Wanders Ronald J. A., Kemp Stephan The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy EMBO molecular medicine 2010;2 (3):90-97 [PubMed]
  • Fourcade Stéphane, Ruiz Montserrat, Guilera Cristina, Hahnen Eric, Brichta Lars, Naudi Alba, Portero-Otín Manuel, Dacremont Georges, Cartier Nathalie, Wanders Ronald, Kemp Stephan, Mandel Jean Louis, Wirth Brunhilde, Pamplona Reinald, Aubourg Patrick, Pujol Aurora Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy Human molecular genetics 2010;19 (10):2005-2014 [PubMed]

2009

  • Janssen Rolf J. R. J., Distelmaier Felix, Smeets Roel, Wijnhoven Tessa, Ostergaard Elsebet, Jaspers Nicolaas G. J., Raams Anja, Kemp Stephan, Rodenburg Richard J. T., Willems Peter H. M. G., van den Heuvel Lambert P. W. J., Smeitink Jan A. M., Nijtmans Leo G. J. Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder Human molecular genetics 2009;18 (18):3365-3374 [PubMed]
  • Sanders Robert-Jan, Ofman Rob, Dekker Conny, Kemp Stephan, Wanders Ronald J. A. Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2009;877 (4):451-455 [PubMed]
  • Sanders Robert-Jan Studies on the omega-oxidation of very long-chain fatty acids in relation to X-linked adrenoleukodystrophy 2009. 134p. ISBN 9789088910937. [UvA Dissertations Online] University of Amsterdam. (Supervisor: Wanders R. J. A.; Co-supervisor: Kemp S.)

2008

  • Sanders Robert-Jan, Ofman Rob, Dacremont Georges, Wanders Ronald J. A., Kemp Stephan Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids FASEB journal 2008;22 (6):2064-2071 [PubMed]
  • Engelen M., Ofman R., Mooijer P. A. W., Poll-The B. T., Wanders R. J. A., Kemp S. Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS 2008;1781 (3):105-111 [PubMed]
  • Kemp Stephan, Valianpour Fredoen, Denis Simone, Ofman Rob, Sanders Robert-Jan, Mooyer Petra, Barth Peter G., Wanders Ronald J. A. Corrigendum to "Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy" (vol 84, pg 144, 2005) Molecular genetics and metabolism 2008;93 (3):350
  • Fourcade Stéphane, Lopez-Erauskin Jone, Galino Jorge, Duval Carine, Naudi Alba, Jove Mariona, Kemp S., Villarroya Francesc, Ferrer Isidre, Pamplona Reinald, Portero-Otin Manuel, Pujol Aurora Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy Human molecular genetics 2008;17 (12):1762-1773 [PubMed]
  • Engelen M., Kemp S., van Geel B. M. Van gen naar ziekte; X-gebonden adrenoleukodystrofie Nederlands tijdschrift voor geneeskunde 2008;152 (14):804-808 [PubMed]

2007

  • Wanders Ronald J. A., Visser Wouter F., van Roermund Carlo W. T., Kemp Stephan, Waterham Hans R. The peroxisomal ABC transporter family Pflugers Archiv 2007;453 (5):719-734 [PubMed]
  • Kemp Stephan, Wanders Ronald J. A. X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment Molecular genetics and metabolism 2007;90 (3):268-276 [PubMed]

2006

  • Gueugnon Fabien, Volodina Natalia, Taouil Jaoued Et, Lopez Tatiana E., Gondcaille Catherine, Grand Anabelle Sequeira-Le, Mooijer Petra A. W., Kemp Stephan, Wanders Ronald J. A., Savary Stéphane A novel cell model to study the function of the adrenoleukodystrophy-related protein Biochemical and biophysical research communications 2006;341 (1):150-157 [PubMed]
  • Linnebank M., Kemp S., Wanders R. J. A., Kleijer W. J., van der Sterre M. L. T., Gärtner J., Fliessbach K., Semmler A., Sokolowski P., Köhler W., Schlegel U., Schmidt S., Klockgether T., Wüllner U. Methionine metabolism and phenotypic variability in X-linked adrenoleukodystrophy Neurology 2006;66 (3):442-443 [PubMed]
  • Sanders R. J., Ofman R., Duran M., Kemp S., Wanders R. J.A. Omega-oxidation of very long-chain fatty acids in human liver microsomes: Implications for X-linked adrenoleukodystrophy? Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde 2006;31 (3):232-233
  • Sanders Robert-Jan, Ofman Rob, Duran Marinus, Kemp Stephan, Wanders Ronald J. A. Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy Journal of biological chemistry 2006;281 (19):13180-13187 [PubMed]
  • Linnebank Michael, Semmler Alexander, Kleijer Wim J., van der Sterre Marianne L. T., Gärtner Jutta, Fliessbach Klaus, Sokolowski Piotr, Köhler Wolfgang, Schlegel Uwe, Klockgether Thomas, Wanders Ronald J. A., Schmidt Stephan, Wüllner Ullrich, Kemp Stephan The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy Human mutation 2006;27 (10):1063-1064 [PubMed]

2005

  • Kemp Stephan, Wanders Ronaldus J. A. ABCD1 mutations and the X-linked adrenoleukodystrophy databasein: J Berger, S Stockler-Ipsiroglu, W Kohler, editors. Understanding and Treating of X-linker adrenoleukodystrophy: Present state and future perspectives. SPS-Publications; 2005. p. 166-179
  • Oezen Iris, Rossmanith Walter, Forss-Petter Sonja, Kemp Stephan, Voigtländer Till, Moser-Thier Karin, Wanders Ronald J., Bittner Reginald E., Berger Johannes Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency Human molecular genetics 2005;14 (9):1127-1137 [PubMed]
  • Kemp Stephan, Valianpour Fredoen, Denis Simone, Ofman Rob, Sanders Robert-Jan, Mooyer Petra, Barth Peter G., Wanders Ronald J. A. Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy Molecular genetics and metabolism 2005;84 (2):144-151 [PubMed]
  • Sanders Robert-Jan, Ofman Rob, Valianpour Fredoen, Kemp Stephan, Wanders Ronald J. A. Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes Journal of lipid research 2005;46 (5):1001-1008 [PubMed]
  • de Ruijter Annemieke J. M., Meinsma Rutger J., Bosma Peter, Kemp Stephan, Caron Huib N., van Kuilenburg André B. P. Gene expression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma Experimental cell research 2005;309 (2):451-467 [PubMed]
  • Ferrer Isidre, Kapfhammer Josef P., Hindelang Colette, Kemp Stephan, Troffer-Charlier Nathalie, Broccoli Vania, Callyzot Noëlle, Mooyer Petra, Selhorst Jacqueline, Vreken Peter, Wanders Ronald J. A., Mandel Jean Louis, Pujol Aurora Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage Human molecular genetics 2005;14 (23):3565-3577 [PubMed]
  • Kemp Stephan, Pronk J.C. X-gebonden adrenoleukodystrofiein: E.K. Bijlsma, J.C. Oosterwijk, N.J. Leschot, J.P.M. Geraedts, J.C. Pronk, editors. Leerboek Medische Genetica. Elsevier Gezonheidszorg; 2005. p. 339-341

2004

  • Kemp Stephan, Valianpour Fredoen, Mooyer Petra A. W., Kulik Willem, Wanders Ronald J. A. Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid Clinical chemistry 2004;50 (10):1824-1826 [PubMed]
  • de Ruijter Annemieke J. M., Kemp Stephan, Kramer Gertjan, Meinsma Rutger J., Kaufmann Judith O., Caron Huib N., van Kuilenburg André B. P. The novel histone deacetylase inhibitor BL1521 inhibits proliferation and induces apoptosis in neuroblastoma cells Biochemical pharmacology 2004;68 (7):1279-1288 [PubMed]

2003

  • Valianpour Fredoen, Selhorst Jacqueline J. M., van Lint Lia E. M., van Gennip Albert H., Wanders Ronald J. A., Kemp Stephan Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry Molecular genetics and metabolism 2003;79 (3):189-196 [PubMed]
  • Heinzer Ann K., Watkins Paul A., Lu Jyh-Feng, Kemp Stephan, Moser Ann B., Li Yuan Yuan, Mihalik Stephanie, Powers James M., Smith Kirby D. A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy Human molecular genetics 2003;12 (10):1145-1154 [PubMed]
  • de Ruijter Annemieke J. M., van Gennip Albert H., Caron Huib N., Kemp Stephan, van Kuilenburg André B. P. Histone deacetylases (HDACs): characterization of the classical HDAC family Biochemical journal 2003;370 (Part 3):737-749 [PubMed]

2002

  • Heinzer Ann K., Kemp Stephan, Lu Jyh-Feng, Watkins Paul A., Smith Kirby D. Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy Journal of biological chemistry 2002;277 (32):28765-28773 [PubMed]

2001

  • Kemp S., Pujol A., Waterham H. R., van Geel B. M., Boehm C. D., Raymond G. V., Cutting G. R., Wanders R. J., Moser H. W. ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations Human mutation 2001;18 (6):499-515 [PubMed]

2000

  • Wei H., Kemp S., McGuinness M. C., Moser A. B., Smith K. D. Pharmacological induction of peroxisomes in peroxisome biogenesis disorders Annals of neurology 2000;47 (3):286-296 [PubMed]

1999

  • Moser H. W., Kemp S., Smith K. D. Mutational analysis and the pathogenesis of variant X-linked adrenoleukodystrophy phenotypes Archives of neurology 1999;56 (3):273-275 [PubMed]
  • Steinberg S. J., Kemp S., Braiterman L. T., Watkins P. A. Role of very-long-chain acyl-coenzyme A synthetase in X-linked adrenoleukodystrophy Annals of neurology 1999;46 (3):409-412 [PubMed]
  • Smith K. D., Kemp S., Braiterman L. T., Lu J. F., Wei H. M., Geraghty M., Stetten G., Bergin J. S., Pevsner J., Watkins P. A. X-linked adrenoleukodystrophy: genes, mutations, and phenotypes Neurochemical research 1999;24 (4):521-535 [PubMed]

1998

  • Kemp S., Wei H. M., Lu J. F., Braiterman L. T., McGuinness M. C., Moser A. B., Watkins P. A., Smith K. D. Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy Nature medicine 1998;4 (11):1261-1268 [PubMed]

1997

  • Janssen E. A., Kemp S., Hensels G. W., Sie O. G., de Die-Smulders C. E., Hoogendijk J. E., de Visser M., Bolhuis P. A. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1) Human genetics 1997;99 (4):501-505 [PubMed]

1996

  • Kemp S., Mooyer P. A., Bolhuis P. A., van Geel B. M., Mandel J. L., Barth P. G., Aubourg P., Wanders R. J. ALDP expression in fibroblasts of patients with X-linked adrenoleukodystrophy Journal of inherited metabolic disease 1996;19 (5):667-674 [PubMed]
  • Oostra R. J., Kemp S., Bolhuis P. A., Bleeker-Wagemakers E. M. No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers Human genetics 1996;97 (4):500-505 [PubMed]

1995

  • Ligtenberg M. J., Kemp S., Sarde C. O., van Geel B. M., Kleijer W. J., Barth P. G., Mandel J. L., van Oost B. A., Bolhuis P. A. Spectrum of mutations in the gene encoding the adrenoleukodystrophy protein American journal of human genetics 1995;56 (1):44-50 [PubMed]
  • Kemp S., Ligtenberg M. J., van Geel B. M., Barth P. G., Sarde C. O., van Oost B. A., Bolhuis P. A. Two intronic mutations in the adrenoleukodystrophy gene Human mutation 1995;6 (3):272-273 [PubMed]

1994

  • Kemp S., Ligtenberg M. J., van Geel B. M., Barth P. G., Wolterman R. A., Schoute F., Sarde C. O., Mandel J. L., van Oost B. A., Bolhuis P. A. Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations Biochemical and biophysical research communications 1994;202 (2):647-653 [PubMed]
  • Janssen E. A., Hensels G. W., van Oost B. A., Hamel B. C., Kemp S., Baas F., Weber J. W., Barth P. G., Bolhuis P. A. The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28 Neuromuscular disorders 1994;4 (5-6):455-461 [PubMed]

1993

  • Kulkens T., Bolhuis P. A., Wolterman R. A., Kemp S., te Nijenhuis S., Valentijn L. J., Hensels G. W., Jennekens F. G., de Visser M., Hoogendijk J. E., Baas F. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B Nature genetics 1993;5 (1):35-39 [PubMed]
  • Schinkel A. H., Kemp S., Dollé M., Rudenko G., Wagenaar E. N-glycosylation and deletion mutants of the human MDR1 P-glycoprotein Journal of biological chemistry 1993;268 (10):7474-7481 [PubMed]
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