Publications Team ALD

Sex-specific newborn screening for X-Linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S.
J Inherit Metab Dis. 2022 Oct 18. doi: 10.1002/jimd.12571. Online ahead of print. PMID: 36256460

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Engelen M, van Ballegoij WJC, Mallack EJ, Van Haren KP, Köhler W, Salsano E, van Trotsenburg ASP, Mochel F, Sevin C, Regelman MO, Tritos NA, Halper A, Lachmann RH, Davison J, Raymond GV, Lund T, Orchard PJ, Kuehl JS, Lindemans CA, Caruso P, Turk BR, Moser AB, Vaz FM, Ferdinandusse S, Kemp S, Fatemi A, Eichler FS, Huffnagel IC.
Neurology. 2022 Sep 29:10.1212/WNL.0000000000201374. doi: 10.1212/WNL.0000000000201374. Online ahead of print. PMID: 36175155

Treatment of cerebral adrenoleukodystrophy: allogeneic transplantation and lentiviral gene therapy.
Gupta AO, Raymond G, Pierpont EI, Kemp S, McIvor RS, Rayannavar A, Miller B, Lund TC, Orchard PJ.
Expert Opin Biol Ther. 2022 Sep;22(9):1151-1162. PMID: 36107226

Peroxisomal very long-chain fatty acid transport is targeted by herpesviruses and the antiviral host response.
Weinhofer I, Buda A, Kunze M, Palfi Z, Traunfellner M, Hesse S, Villoria-Gonzalez A, Hofmann J, Hametner S, Regelsberger G, Moser AB, Eichler F, Kemp S, Bauer J, Kühl JS, Forss-Petter S, Berger J.
Commun Biol. 2022 Sep 9;5(1):944. PMID: 36085307

Peroxisome Metabolism Contributes to PIEZO2-Mediated Mechanical Allodynia.
Gong Y, Laheji F, Berenson A, Qian A, Park SO, Kok R, Selig M, Hahn R, Sadjadi R, Kemp S, Eichler F.
Cells. 2022 Jun 4;11(11):1842. PMID: 35681537

Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Mallack EJ, Gao K, Engelen M, Kemp S.
Cells. 2022 Jan 14;11(2):283. PMID: 35053399

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S.
Genes (Basel). 2021 Nov 30;12(12):1930. PMID: 34946879

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Honey MIJ, Jaspers YRJ, Engelen M, Kemp S, Huffnagel IC.
Cells. 2021 Dec 6;10(12):3427. PMID: 34943935

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.
Lotz-Havla AS, Woidy M, Guder P, Friedel CC, Klingbeil JM, Bulau AM, Schultze A, Dahmen I, Noll-Puchta H, Kemp S, Erdmann R, Zimmer R, Muntau AC, Gersting SW.
J Proteome Res. 2021 Sep 3;20(9):4366-4380. PMID: 34383492

Endocrine dysfunction in adrenoleukodystrophy.
Engelen M, Kemp S, Eichler F.
Handb Clin Neurol. 2021;182:257-267. PMID: 34266597

The brain penetrant PPARγ agonist leriglitazone restores multiple altered pathways in models of X-linked adrenoleukodystrophy.
Rodríguez-Pascau L, Vilalta A, Cerrada M, Traver E, Forss-Petter S, Weinhofer I, Bauer J, Kemp S, Pina G, Pascual S, Meya U, Musolino PL, Berger J, Martinell M, Pizcueta P.
Sci Transl Med. 2021 Jun 2;13(596):eabc0555. PMID: 34078742

Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
Raas Q, van de Beek MC, Forss-Petter S, Dijkstra IM, Deschiffart A, Freshner BC, Stevenson TJ, Jaspers YR, Nagtzaam L, Wanders RJ, van Weeghel M, Engelen-Lee JY, Engelen M, Eichler F, Berger J, Bonkowsky JL, Kemp S.
J Clin Invest. 2021 Apr 15;131(8):e142500. PMID: 33690217

MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Mallack EJ, Turk BR, Yan H, Price C, Demetres M, Moser AB, Becker C, Hollandsworth K, Adang L, Vanderver A, Van Haren K, Ruzhnikov M, Kurtzberg J, Maegawa G, Orchard PJ, Lund TC, Raymond GV, Regelmann M, Orsini JJ, Seeger E, Kemp S, Eichler F, Fatemi A.
J Inherit Metab Dis. 2021 May;44(3):728-739. PMID: 33373467

Evolution of adrenoleukodystrophy model systems.
Montoro R, Heine VM, Kemp S, Engelen M.
J Inherit Metab Dis. 2021 May;44(3):544-553. PMID: 33373044

The variability conundrum in neurometabolic degenerative diseases.
van Karnebeek CDM, Richmond PA, van der Kloet F, Wasserman WW, Engelen M, Kemp S.
Mol Genet Metab. 2020 Dec;131(4):367-369. PMID: 33246824

Plasma NfL and GFAP as biomarkers of spinal cord degeneration in adrenoleukodystrophy.
van Ballegoij WJC, van de Stadt SIW, Huffnagel IC, Kemp S, Willemse EAJ, Teunissen CE, Engelen M.
Ann Clin Transl Neurol. 2020 Nov;7(11):2127-2136. PMID: 33047897

Targeting foam cell formation in inflammatory brain diseases by the histone modifier MS-275.
Zierfuss B, Weinhofer I, Buda A, Popitsch N, Hess L, Moos V, Hametner S, Kemp S, Köhler W, Forss-Petter S, Seiser C, Berger J.
Ann Clin Transl Neurol. 2020 Nov;7(11):2161-2177. PMID: 32997393

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.
Jaspers YRJ, Ferdinandusse S, Dijkstra IME, Barendsen RW, van Lenthe H, Kulik W, Engelen M, Goorden SMI, Vaz FM, Kemp S.
Front Cell Dev Biol. 2020 Jul 29;8:690. doi: 10.3389/fcell.2020.00690. PMID: 32903870

Postural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.
van Ballegoij WJC, van de Stadt SIW, Huffnagel IC, Kemp S, van der Knaap MS, Engelen M.
Front Physiol. 2020 Jul 17;11:786. PMID: 32765293

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy.
Richmond PA, van der Kloet F, Vaz FM, Lin D, Uzozie A, Graham E, Kobor M, Mostafavi S, Moerland PD, Lange PF, van Kampen AHC, Wasserman WW, Engelen M, Kemp S, van Karnebeek CDM.
Front Cell Dev Biol. 2020 Jun 25;8:520. PMID: 32671069

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S.
Front Cell Dev Biol. 2020 Jun 17;8:499. PMID: 32626714

Spinal cord atrophy as a measure of severity of myelopathy in adrenoleukodystrophy.
van de Stadt SIW, van Ballegoij WJC, Labounek R, Huffnagel IC, Kemp S, Nestrasil I, Engelen M.
J Inherit Metab Dis. 2020 Jul;43(4):852-860. PMID: 32077106

Longitudinal diffusion MRI as surrogate outcome measure for myelopathy in adrenoleukodystrophy.
Huffnagel IC, van Ballegoij WJC, Vos JMBW, Kemp S, Caan MWA, Engelen M.
Neurology. 2019 Dec 3;93(23):e2133-e2143. PMID: 31719133

Disease progression in women with X-linked adrenoleukodystrophy is slow.
Huffnagel IC, Dijkgraaf MGW, Janssens GE, van Weeghel M, van Geel BM, Poll-The BT, Kemp S, Engelen M.
Orphanet J Rare Dis. 2019 Feb 7;14(1):30. PMID: 30732635

Progression of myelopathy in males with adrenoleukodystrophy: towards clinical trial readiness.
Huffnagel IC, van Ballegoij WJC, van Geel BM, Vos JMBW, Kemp S, Engelen M.
Brain. 2019 Feb 1;142(2):334-343. PMID: 30535170

The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.
Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F.
J Clin Endocrinol Metab. 2019 Jan 1;104(1):118-126. PMID: 30252065

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.
Huffnagel IC, van de Beek MC, Showers AL, Orsini JJ, Klouwer FCC, Dijkstra IME, Schielen PC, van Lenthe H, Wanders RJA, Vaz FM, Morrissey MA, Engelen M, Kemp S.
Mol Genet Metab. 2017 Dec;122(4):209-215. PMID: 29089175

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
van de Beek MC, Ofman R, Dijkstra I, Wijburg F, Engelen M, Wanders R, Kemp S.
Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2255-2265. PMID: 28666219

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history.
Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M.
Nat Rev Endocrinol. 2016 Oct;12(10):606-15. PMID: 27312864

26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
van de Beek MC, Dijkstra IM, van Lenthe H, Ofman R, Goldhaber-Pasillas D, Schauer N, Schackmann M, Engelen-Lee JY, Vaz FM, Kulik W, Wanders RJ, Engelen M, Kemp S.
PLoS One. 2016 Apr 28;11(4):e0154597. PMID: 27124591

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ, Ofman R, van Geel BM, Dijkstra IM, van Engelen K, Wanders RJ, Engelen M, Kemp S.
Mol Genet Metab. 2016 Jun;118(2):123-7. PMID: 27067449

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study.
van Geel BM, Poll-The BT, Verrips A, Boelens JJ, Kemp S, Engelen M.
J Inherit Metab Dis. 2015 Mar;38(2):359-61. PMID: 25488625

X-linked adrenoleukodystrophy: pathogenesis and treatment.
Engelen M, Kemp S, Poll-The BT.
Curr Neurol Neurosci Rep. 2014 Oct;14(10):486. PMID: 25115486

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.
Brain. 2015 Feb;138(Pt 2):e326. PMID: 25149411

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.
Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, de Visser M, Poll-The BT, Kemp S.
Brain. 2014 Mar;137(Pt 3):693-706. PMID: 24480483

Comment on the paper “Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit”.
Engelen M, Ofman R, Dijkgraaf M, van Geel B, de Visser M, Wanders R, Poll-The BT, Kemp S.
Clin Neurol Neurosurg. 2013 Nov;115(11):2401-2. PMID: 24018110

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.
Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P, Poll-The BT.
Orphanet J Rare Dis. 2012 Aug 13;7:51. PMID: 22889154

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation.
Engelen M, Schackmann MJ, Ofman R, Sanders RJ, Dijkstra IM, Houten SM, Fourcade S, Pujol A, Poll-The BT, Wanders RJ, Kemp S.
J Inherit Metab Dis. 2012 Nov;35(6):1137-45. PMID: 22447153

Bezafibrate for X-linked adrenoleukodystrophy.
Engelen M, Tran L, Ofman R, Brennecke J, Moser AB, Dijkstra IM, Wanders RJ, Poll-The BT, Kemp S.
PLoS One. 2012;7(7):e41013. PMID: 22911730

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
Engelen M, van der Kooi AJ, Kemp S, Wanders RJ, Sistermans EA, Waterham HR, Koelman JT, van Geel BM, de Visser M.
J Peripher Nerv Syst. 2011 Dec;16(4):353-5. PMID: 22176151

Lovastatin in X-linked adrenoleukodystrophy.
Engelen M, Ofman R, Dijkgraaf MG, Hijzen M, van der Wardt LA, van Geel BM, de Visser M, Wanders RJ, Poll-The BT, Kemp S.
N Engl J Med. 2010 Jan 21;362(3):276-7. PMID: 20089986

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy.
Engelen M, Ofman R, Mooijer PA, Poll-The BT, Wanders RJ, Kemp S.
Biochim Biophys Acta. 2008 Mar;1781(3):105-11. PMID: 18206987

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids.
Sanders RJ, Ofman R, Dacremont G, Wanders RJ, Kemp S.
FASEB J. 2008 Jun;22(6):2064-71. PMID: 18182499

X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment.
Kemp S, Wanders RJ.
Mol Genet Metab. 2007 Mar;90(3):268-76. doi: 10.1016/j.ymgme.2006.10.001. Epub 2006 Nov 7.
PMID: 17092750

Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy.
Sanders RJ, Ofman R, Duran M, Kemp S, Wanders RJA.
J Biol Chem. 2006 May 12;281(19):13180-13187. doi: 10.1074/jbc.M513481200. Epub 2006 Mar 17.
PMID: 16547005

Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy.
Kemp S, Wei HM, Lu JF, Braiterman LT, McGuinness MC, Moser AB, Watkins PA, Smith KD.
Nat Med. 1998 Nov;4(11):1261-8. doi: 10.1038/3242.
PMID: 9809549

Last modified | 2022-10-20