Eduard Struys

DRS.ING.

19992020

Research output per year

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Research Output

2020

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

Vernau, K. M., Struys, E., Letko, A., Woolard, K. D., Aguilar, M., Brown, E. A., Cissell, D. D., Dickinson, P. J., Shelton, G. D., Broome, M. R., Gibson, K. M., Pearl, P. L., König, F., van Winkle, T. J., O'Brien, D., Roos, B., Matiasek, K., Jagannathan, V., Drögemüller, C., Mansour, T. A. & 2 others, Brown, C. T. & Bannasch, D. L., 2 Sep 2020, In : Genes. 11, 9

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

No evidence for cell-to-cell transmission of the unfolded protein response in cell culture

van Ziel, A. M., Wolzak, K., Nölle, A., Hoetjes, P. J., Berenjeno-Correa, E., van Anken, E., Struys, E. A. & Scheper, W., Jan 2020, In : Journal of Neurochemistry. 152, 2, p. 208-220 13 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2019

D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Ozturk, S., van Oostendorp, J., Lennertz, P., Kranendijk, M., van der Knaap, M. S., Gibson, K. M., van Schaftingen, E. & Salomons, G. S., 1 Jul 2019, In : Human Mutation. 40, 7, p. 975-982 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

In vivo efficacy of mutant IDH1 inhibitor HMS-101 and structural resolution of distinct binding site

Chaturvedi, A., Goparaju, R., Gupta, C., Weder, J., Klünemann, T., Araujo Cruz, M. M., Kloos, A., Goerlich, K., Schottmann, R., Othman, B., Struys, E. A., Bähre, H., Grote-Koska, D., Brand, K., Ganser, A., Preller, M. & Heuser, M., Oct 2019, In : Leukemia.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Pre-analytical stability of novel cerebrospinal fluid biomarkers

Willemse, E. A. J., Vermeiren, Y., Garcia-Ayllon, M-S., Bridel, C., De Deyn, P. P., Engelborghs, S., van der Flier, W. M., Jansen, E. E. W., Lopez-Font, I. B., Mendes, V., Manadas, B., de Roeck, N., Saez-Valero, J., Struys, E. A., Vanmechelen, E., Andreasson, U. & Teunissen, C. E., 1 Oct 2019, In : Clinica Chimica Acta. 497, p. 204-211 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

Vanishing white matter: deregulated integrated stress response as therapy target

Abbink, T. E. M., Wisse, L. E., Jaku, E., Thiecke, M. J., Voltolini-González, D., Fritsen, H., Bobeldijk, S., ter Braak, T. J., Polder, E., Postma, N. L., Bugiani, M., Struijs, E. A., Verheijen, M., Straat, N., van der Sluis, S., Thomas, A. A. M., Molenaar, D. & van der Knaap, M. S., 1 Jan 2019, In : Annals of Clinical and Translational Neurology. 6, 8, p. 1407-1422 16 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access
2018

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

Pop, A., Williams, M., Struys, E. A., Monné, M., Jansen, E. E. W., de Grassi, A., Kanhai, W. A., Scarcia, P., Ojeda, M. R. F., Porcelli, V., van Dooren, S. J. M., Lennertz, P., Nota, B., Abdenur, J. E., Coman, D., Das, A. M., El-Gharbawy, A., Nuoffer, J. M., Polic, B., Santer, R. & 5 others, Weinhold, N., Zuccarelli, B., Palmieri, F., Palmieri, L. & Salomons, G. S., 1 Mar 2018, In : Journal of Inherited Metabolic Disease. 41, 2, p. 169-180 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Fecal Amino Acid Analysis Can Discriminate De Novo Treatment-Naïve Pediatric Inflammatory Bowel Disease From Controls

Bosch, S., Struys, E. A., van Gaal, N., Bakkali, A., Jansen, E. W., Diederen, K., Benninga, M. A., Mulder, C. J., de Boer, N. K. H. & de Meij, T. G. J., 1 May 2018, In : Journal of Pediatric Gastroenterology and Nutrition. p. 773-778 6 p.

Research output: Contribution to journalArticleAcademicpeer-review

Idh1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis

Gao, Y., de Wit, M., Struys, E. A., van der Linde, H. C. Z., Salomons, G. S., Lamfers, M. L. M., Willemsen, R., Sillevis Smitt, P. A. E. & French, P. J., 2018, In : PLoS ONE. 13, 6, e0199737.

Research output: Contribution to journalArticleAcademicpeer-review

Open Access

Ontwikkeling van een LC-MS/MS methode voor de bepaling van folylpolyglutamaat synthetase (FPGS)

Muller, IB., Struys, EA., Lems, WF., Cloos, J., Jansen, G. & de Jonge, R., Oct 2018, In : Analyse. 73, 5, p. 101-103 3 p.

Research output: Contribution to journalArticleProfessional

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

de Rooy, R. L. P., Halbertsma, F. J., Struijs, E. A., van Spronsen, F. J., Lunsing, R. J., Schippers, H. M., van Hasselt, P. M., Plecko, B., Wohlrab, G., Whalen, S., Benoist, J. F., Valence, S., Mills, P. B. & Bok, L. A., 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 662-666

Research output: Contribution to journalArticleAcademicpeer-review

Severe lactic acidosis associated with a suspected succinic semialdehyde dehydrogenase (SSADH) deficiency in a young Chihuahua dog

Kelmer, E., Gibson, K. M., Jakobs, C., Struys, E., Shelton, G. D., Aroch, I. & O’Brien, D. P., 2018, In : Israel Journal of Veterinary Medicine. 73, 2, p. 43-48

Research output: Contribution to journalArticleAcademicpeer-review

2017

Blood-based metabolic signatures in Alzheimer's disease

de Leeuw, F. A., Peeters, C. F. W., Kester, M. I., Harms, A. C., Struys, E. A., Hankemeier, T., van Vlijmen, H. W. T., van der Lee, S. J., van Duijn, C. M., Scheltens, P., Demirkan, A., van de Wiel, M. A., van der Flier, W. M. & Teunissen, C. E., 2017, In : Alzheimer's and Dementia: Diagnosis, Assessment and Disease Monitoring. 8, p. 196-207 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Cyst fluid from cystic, malignant brain tumors: A reservoir of nutrients, including growth factor-like nutrients, for tumor cells

Dahlberg, D., Struys, E. A., Jansen, E. E., Mørkrid, L., Midttun, Ø. & Hassel, B., 2017, In : Neurosurgery. 80, 6, p. 917-924

Research output: Contribution to journalArticleAcademicpeer-review

Evidence for Altered Glutamine Metabolism in Human Immunodeficiency Virus Type 1 Infected Primary Human CD4+ T Cells

Hegedus, A., Kavanagh Williamson, M., Khan, M. B., Dias Zeidler, J., Da Poian, A. T., El-Bacha, T., Struys, E. A. & Huthoff, H., 1 Dec 2017, In : AIDS Research and Human Retroviruses. 33, 12, p. 1236-1247 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

Experimental evidence of oxidative stress in patients with L-2-hydroxyglutaric aciduria and that L-carnitine attenuates in vitro DNA damage caused by D-2-hydroxyglutaric and L-2-hydroxyglutaric acids

Rodrigues, D. G. B., de Moura Coelho, D., Sitta, Â., Jacques, C. E. D., Hauschild, T., Manfredini, V., Bakkali, A., Struys, E. A., Jakobs, C., Wajner, M. & Vargas, C. R., 1 Aug 2017, In : Toxicology in Vitro. 42, p. 47-53 7 p.

Research output: Contribution to journalArticleAcademicpeer-review

Measurement of oncometabolites D-2-hydroxyglutaric acid and L-2-hydroxyglutaric acid

Jones, P. M., Boriack, R., Struys, E. A. & Rakheja, D., 2017, Methods in Molecular Biology. Humana Press Inc., Vol. 1633. p. 219-234 16 p. (Methods in Molecular Biology; vol. 1633).

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

Pan-mutant-IDH1 inhibitor BAY1436032 is highly effective against human IDH1 mutant acute myeloid leukemia in vivo

Chaturvedi, A., Herbst, L., Pusch, S., Klett, L., Goparaju, R., Stichel, D., Kaulfuss, S., Panknin, O., Zimmermann, K., Toschi, L., Neuhaus, R., Haegebarth, A., Rehwinkel, H., Hess-Stumpp, H., Bauser, M., Bochtler, T., Struys, E. A., Sharma, A., Bakkali, A., Geffers, R. & 9 others, Araujo-Cruz, M. M., Thol, F., Gabdoulline, R., Ganser, A., Ho, A. D., Von Deimling, A., Rippe, K., Heuser, M. & Krämer, A., 1 Oct 2017, In : Leukemia. 31, 10, p. 2020-2028 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy

Al Teneiji, A., Bruun, T. U. J., Cordeiro, D., Patel, J., Inbar-Feigenberg, M., Weiss, S., Struys, E. & Mercimek-Mahmutoglu, S., Apr 2017, In : METABOLIC BRAIN DISEASE. 32, 2, p. 443-451 9 p.

Research output: Contribution to journalArticleAcademicpeer-review

Profiling peripheral metabolic dysregulation in Alzheimer’s disease: The added value of multiple signatures. Alzheimer’s & Dementia

de Leeuw, F. A., Peeters, C. F. W., Kester, M. I., Harms, A. C., Hankemeier, T., Struys, E. A., Demirkan, A., Scheltens, P., van Vlijmen, H. W. T., van de Wiel, M. A., van Duijn, C. M., van der Flier, W. M. & Teunissen, C. E., Jun 2017, In : Alzheimers & Dementia. 13, 7, p. P1024-P1025

Research output: Contribution to journalMeeting AbstractAcademic

Role of proton-coupled folate transporter in pemetrexed resistance of mesothelioma: Clinical evidence and new pharmacological tools

Giovannetti, E., Zucali, P. A., Assaraf, Y. G., Funel, N., Gemelli, M., Stark, M., Thunnissen, E., Hou, Z., Muller, I. B., Struys, E. A., Perrino, M., Jansen, G., Matherly, L. H. & Peters, G. J., 2017, In : Annals of Oncology. 28, 11, p. 2725-2732 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

2016

2-hydroxyglutaric aciduria

Struys, EA., van der Knaap, MS. & Salomons, GS., 18 Aug 2016, Inherited Metabolic Disease in Adults: A Clinical Guide. Hollak, CEM. & Lachmann, R. (eds.). Oxford University Press, Chapter 22

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1

Mahajnah, M., Corderio, D., Austin, V., Herd, S., Mutch, C., Carter, M., Struys, E. & Mercimek-Mahmutoglu, S., Jul 2016, In : Pediatric Neurology. 60, p. 60-65

Research output: Contribution to journalArticleAcademicpeer-review

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

Wang, F., Travins, J., Lin, Z., Si, Y., Chen, Y., Powe, J., Murray, S., Zhu, D., Artin, E., Gross, S., Santiago, S., Steadman, M., Kernytsky, A., Straley, K., Lu, C., Pop, A., Struys, E. A., Jansen, E. E. W., Salomons, G. S., David, M. D. & 14 others, Quivoron, C., Penard-Lacronique, V., Regan, K. S., Liu, W., Dang, L., Yang, H., Silverman, L., Agresta, S., Dorsch, M., Biller, S., Yen, K., Cang, Y., Su, S. S. M. & Jin, S., 1 Nov 2016, In : Journal of Inherited Metabolic Disease. 39, 6, p. 807-820 14 p.

Research output: Contribution to journalArticleAcademicpeer-review

Enantiomer-specific and paracrine leukemogenicity of mutant IDH metabolite 2-hydroxyglutarate

Chaturvedi, A., Cruz, M. M. A., Jyotsana, N., Sharma, A., Goparaju, R., Schwarzer, A., Goerlich, K., Schottmann, R., Struijs, E., Jansen, E. E., Rohde, C., Mueller-Tidow, C., Geffers, R., Goehring, G., Ganser, A., Thol, F. & Heuser, M., Aug 2016, In : Leukemia. 30, 8, p. 1708-1715

Research output: Contribution to journalArticleAcademicpeer-review

Frequent reconstitution of IDH2(R140Q) mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia

Wiseman, D. H., Williams, E. L., Wilks, D. P., Sun Leong, H., Somerville, T. D. D., Dennis, M. W., Struys, E. A., Bakkali, A., Salomons, G. S. & Somervaille, T. C. P., Sep 2016, In : Leukemia. 30, 9, p. 1946-1950 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Jaeger, B., Abeling, N. G., Salomons, G. S., Struys, E. A., Simas-Mendes, M., Geukers, V. G. & Poll-The, B. T., 1 Mar 2016, In : Molecular Genetics and Metabolism Reports. 6, p. 60-63 4 p.

Research output: Contribution to journalArticleAcademicpeer-review

The value of plasma vitamin B-6 profiles in early onset epileptic encephalopathies

Mathis, D., Abela, L., Albersen, M., Burer, C., Crowther, L., Beese, K., Hartmann, H., Bok, L. A., Struys, E., Papuc, S. M., Rauch, A., Hersberger, M., Verhoeven-Duif, N. M. & Plecko, B., Sep 2016, In : Journal of Inherited Metabolic Disease. 39, 5, p. 733-741

Research output: Contribution to journalArticleAcademicpeer-review

2015

Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy

Wiseman, D. H., Struys, E. A., Wilks, D. P., Clark, C. I., Dennis, M. W., Jansen, E. E. W., Salomons, G. & Somervaille, T. C. P., 2015, In : Leukemia. 29, 12, p. 2421-2423

Research output: Contribution to journalArticleAcademicpeer-review

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

Prasun, P., Young, S., Salomons, G., Werneke, A., Jiang, Y. H., Struijs, E. A., Paige, M., Avantaggiati, M. L. & McDonald, M., 2015, In : JIMD Reports. 19, p. 111-115

Research output: Contribution to journalArticleAcademicpeer-review

Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines

Suijker, J., Oosting, J., Koornneef, A., Struys, E. A., Salomons, G., Schaap, F. G., Waaijer, C. J. F., Wijers-Koster, P. M., Bruijn, I. H. B. D., Haazen, L., Riester, S. M., Dudakovic, A., Danen, E., Cleton-Jansen, A. M., van Wijnen, A. J. & Bovee, J. V. M. G., 2015, In : Oncotarget. 6, 14, p. 12505-12519

Research output: Contribution to journalArticleAcademicpeer-review

Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I

Posset, R., Opp, S., Struys, E. A., Volkl, A., Mohr, H., Hoffmann, G. F., Kolker, S., Sauer, S. W. & Okun, J. G., 2015, In : Journal of Inherited Metabolic Disease. 38, 2, p. 265-272

Research output: Contribution to journalArticleAcademicpeer-review

2014

Cerebral Organic Acidurias

Kolker, S., Struijs, E. A., van der Knaap, M. S. & Jakobs, C. A. J. M., 2014, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Berlin Heidelberg: Springer, p. 143-156

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

Muhlhausen, C., Salomons, G. S., Lukacs, Z., Struys, E. A., van der Knaap, M. S., Ullrich, K. & Santer, R., 2014, In : Journal of Inherited Metabolic Disease. 37, 5, p. 775-781

Research output: Contribution to journalArticleAcademicpeer-review

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M. C., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., Jong, B. A., al Ghamdi, M., van Wieringen, W. N., Tannous, B. A., Hulleman, E., Wurdinger, T., van Berkel, C. G. M., Polder, E., Abbink, T. E. M., Struys, E. A. & 2 others, Scheper, G. C. & van der Knaap, M. S., 2014, In : Brain. 137, p. 1019-1029

Research output: Contribution to journalArticleAcademicpeer-review

Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

van Karnebeek, C. D., Stockler-Ipsiroglu, S., Jaggumantri, S., Assmann, B., Baxter, P., Bushas, D., Bok, L. A., Cheng, B., Coughlin, C. R. ., Das, A. M., Giezen, A., Al-Hertani, W., Ho, G., Meyer, U., Mills, P., Plecko, B., Struys, E. A., Ueda, K., Albersen, M., Verhoeven, N. & 4 others, Gospe, S. M. J., Gallagher, R. C., Van Hove, J. K. & Harmann, H., 2014, In : JIMD Reports. 15, p. 1-11

Research output: Contribution to journalArticleAcademicpeer-review

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet

Mercimek-Mahmutoglu, S., Cordeiro, D., Cruz, V., Hyland, K., Struys, E. A., Kyriakopoulou, L. & Mamak, E., 2014, In : European Journal of Paediatric Neurology. 18, 6, p. 741-746

Research output: Contribution to journalArticleAcademicpeer-review

Pyridoxine responsiveness in novel mutations of the PNPO gene

Plecko, B., Paul, K., Mills, P., Clayton, P., Paschke, E., Maier, O., Hasselmann, O., Schmiedel, G., Kanz, S., Connolly, M., Wolf, N. I., Struys, E. A., Stockler, S., Abela, L. & Hofer, D., 2014, In : Neurology. 82, 16, p. 1425-1433

Research output: Contribution to journalArticleAcademicpeer-review

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

Ware, T. L., Earl, J., Salomons, G. S., Struys, E. A., Peters, H. L., Howell, K. B., Pitt, J. J. & Freeman, J. L., 2014, In : Developmental Medicine and Child Neurology. 56, 5, p. 498-502

Research output: Contribution to journalArticleAcademicpeer-review

Vitamin B6-Dependent and Responsive Disorders

Plecko, B. R., Struijs, E. A. & Jakobs, C. A. J. M., 2014, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Berlin Heidelberg: Springer, p. 179-190

Research output: Chapter in Book/Report/Conference proceedingChapterAcademic

2013

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2-and L-2-Hydroxyglutaric Aciduria

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Ojeda, M. R. F., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A. C., Nuoffer, J. M., Parini, R. & 8 others, Read, M. H., Renneberg, A., Santer, R., Strahleck, T., van Schaftingen, E., van der Knaap, M. S., Jakobs, C. A. J. M. & Salomons, G. S., 2013, In : American journal of human genetics. 92, 4, p. 627-631

Research output: Contribution to journalArticleAcademicpeer-review

Mutant IDH1 promotes leukemogenesis in vivo and can be specifically targeted in human AML

Chaturvedi, A., Cruz, M. M. A., Jyotsana, N., Sharma, A., Yun, H. Y., Gorlich, K., Wichmann, M., Schwarzer, A., Preller, M., Thol, F., Meyer, J., Haemmerle, R., Struys, E. A., Jansen, E. E., Modlich, U., Li, Z. X., Sly, L. M., Geffers, R., Lindner, R., Manstein, D. J. & 4 others, Lehmann, U., Krauter, J., Ganser, A. & Heuser, M., 2013, In : Blood. 122, 16, p. 2877-2887

Research output: Contribution to journalArticleAcademicpeer-review

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

Oliveira, R., Pereira, C., Rodrigues, F., Alfaite, C., Garcia, P., Robalo, C., Fineza, I., Goncalves, O., Struys, E. A., Salomons, G. S., Jakobs, C. A. J. M. & Diogo, L., 2013, In : Epileptic Disorders. 15, 4, p. 400-406

Research output: Contribution to journalArticleAcademicpeer-review

Pyridoxine-dependent epilepsy owing to antiquitin deficiency - mutation in the ALDH7A1 gene

Jagadeesh, S., Suresh, B., Murugan, V., Suresh, S., Salomons, G. S., Struys, E. A. & Jacobs, C., 2013, In : Paediatrics and International Child Health. 33, 2, p. 113-115

Research output: Contribution to journalArticleAcademicpeer-review

2012

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1

Milh, M., Pop, A., Kanhai, W., Villeneuve, N., Cano, A., Struijs, E. A., Salomons, G. S., Chabrol, B. & Jakobs, C. A. J. M., 2012, In : Molecular Genetics and Metabolism. 105, 4, p. 684-686

Research output: Contribution to journalArticleAcademicpeer-review