Dr Erik Schoenmakers

Department of Metabolism and Systems Science
Research Fellow

Contact details

Email: e.schoenmakers@bham.ac.uk

Address: University of Birmingham
Edgbaston
Birmingham
B15 2TT
UK

Erik Schoenmakers is a Research Fellow working with Professor Nadia Schoenmakers in the Department of Metabolism and Systems Science.

His research interests span many aspects of genetic and molecular endocrinology with a particular emphasis on health and disease due to defective synthesis and action of hormones acting via nuclear receptors.

A current focus involves elucidating the molecular consequences of genetically-mediated human selenoprotein deficiency disorders. These multi-system disorders result from global selenoprotein deficiencies, including subnormal levels of deiodinase enzymes which metabolise thyroid hormones and oxidoreductase selenoenzymes which combat oxidative stress.

He also investigates the molecular basis of congenital hypothyroidism, using laboratory studies and animal models to evaluate the consequences of genetic defects. Additional interests include the syndromes of Resistance to Thyroid Hormone with variable tissue refractoriness to hormone action due to defective thyroid hormone recetor subtypes.

Qualifications

PhD in Medical Sciences, KU Leuven, Belgium, 2000
Masters in Cellular Biotechnology, KU Leuven, Belgium, 1995
BA Industrial engineering biochemistry, Karel de Grote
Hogeschool, Belgium, 1994

Biography

Erik achieved a PhD in Medical Sciences at the Katholieke Universteit Leuven (Belgium) in 2000, where he was initially introduced to nuclear hormone receptors biology.

In his first Post-Doctoral position at Katholieke Universteit Leuven (Belgium) he gained experience in genetically modified mouse models using artificial minichromosomes.

He subsequently moved to the UK in 2002 to take up a post-doctoral research position at the Institute of Metabolic Science, University of Cambridge with Professor Krishna Chatterjee. He remained with this group prior to moving to UoB, initially studying defective nuclear hormone receptors underlying Resistance to Thyroid Hormone (RTH) and PPARg-mediated insulin resistance. He developed a keen interest in structural-functional interactions during this time and undertook crystallisation studies as a visiting scientist in the laboratory of Prof John Schwabe, University of Leicester.

More recent work has focussed on characterizing the molecular basis of genetic disorders of the hypothalamic-pituitary-thyroid axis. Erik is particularly interested in the multisystem selenoprotein deficiency disorders occurring due to mutations in SECISBP2 or tRNASec and aims to elucidate and ameliorate the molecular consequences of these disorders. Additional interests include These include RTH alpha and beta, and genetic causes of primary congenital hypothyroidism.

Erik moved to UoB in August 2024 and works as a Research Fellow with Professor Nadia Schoenmakers in the Department of Metabolism and Systems Science.

Research

Erik is particularly interested in studying a multisystem selenoprotein deficiency disorder due to mutations in SECISBP2 or tRNASec. He has identified many phenotypes (e.g. muscular dystrophy, hearing loss, male infertility, aortopathy) and aims to investigate other aspects (e.g. premature ageing, neoplasia, ferroptosis) and the roles of selenoproteins of unknown function, in this disorder.

Erik’s broader research interests span genetic and molecular endocrinology with particular focus on disorders of the hypothalamic-pituitary-thyroid axis. He aims to understand the functional consequences of mutations in genes mediating central TSH deficiency, or primary congenital hypothyroidism (eg. TRHR, PAX8, DUOX2, DUOXA2, TPO), and to understand the role of novel causative genes in thyroid biology (SLC26A7). He also investigates the tissue-specific consequences of defective thyroid hormone action (THRA, THRB).

Erik also maintains a longstanding interest in nuclear hormone receptors (steroid hormone receptors, PPARg, LXR, …) and their association with human disease.

Research Centres and Groups

https://www.mrl.ims.cam.ac.uk/

Publications

Lockhart SM, Muso M, Zvetkova I, Lam BYH, Ferrari A, Schoenmakers E, Duckett K, Leslie J, Collins A, Romartínez-Alonso B, Tadross JA, Jia R, Gardner EJ, Kentistou K, Zhao Y, Day F, Mörseburg A, Rainbow K, Rimmington D, Mastantuoni M, Harrison J, Nus M, Guma’a K, Sherratt-Mayhew S, Jiang X, Smith KR, Paul DS, Jenkins B, Koulman A, Pietzner M, Langenberg C, Wareham N, Yeo GS, Chatterjee K, Schwabe J, Oakley F, Mann D, Tontonoz P, Coll T, Ong K, Perry JRB and O’Rahilly S (2024) Damaging mutations in LXRα uncouple lipogenesis from hepatotoxicity and implicate hepatic cholesterol sensing in human liver health. Nature Metabolism [Epub ahead of print].

Schoenmakers E, Marelli F, Jorgensen HF, Visser WEV, Moran C, Groeneweg S, Avalos C, Jurgens SJ, Figg N, Finigan A, Wali N, Agostini M, Wardle-Jones H, Lyons G, Rusk R, Gopalan D, Twiss P, Visser J, Goddard M, Nashef S, Heijmen R, Clift P, Sinha S, Pirruccello JP, Ellinor PT, Busch-Nentwich E, Ramirez-Solis R, Murphy MP, Persani L, Bennett M and Chatterjee K, (2023) Selenoprotein deficiency predisposes to aortic aneurysm formation. Nature communications 14(1), 7994. https://doi.org/10.1038/s41467-023-43851-6

Moran C, Schoenmakers N, Visser WE, Schoenmakers E, Agostini M and Chatterjee K (2022) Genetic disorders of thyroid development, hormone biosynthesis and signalling. Clinical Endocrinology 97(4), 502–514. https://doi.org/10.1111/cen.14817

Durgia H, Nicholas AK, Schoenmakers E, Dickens JA, Halanaik D, Sahoo J, Kamalanathan S and Schoenmakers N (2022) Brief Report: A Novel Sodium/Iodide Symporter Mutation, S356F, Causing Congenital Hypothyroidism. Thyroid 32(2), 215–218. https://doi.org/10.1089/thy.2021.0478

Schoenmakers E and Chatterjee K (2021) Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency. International journal of molecular sciences 22(23), 12927. https://doi.org/10.3390/ijms222312927

Krieger TG, Moran CM, Frangini A, Visser WE, Schoenmakers E, Muntoni F, Clark CA, Gadian D, Chong WK, Kuczynski A, Dattani M, Lyons G, Efthymiadou A, Varga-Khadem F, Simons BD, Chatterjee K and Livesey FJ (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America 116(45), 22754–22763. https://doi.org/10.1073/pnas.1908762116

Peters C, Nicholas AK, Schoenmakers E, Lyons G, Langham S, Serra EG, Sebire NJ, Muzza M, Fugazzola L, Schoenmakers N, (2019) DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom. Thyroid 29(6):790-801. https://doi.org/10.1089/thy.2018.058

Cangul H, Liao XH, Schoenmakers E, Kero J, Barone S, Srichomkwun P, Iwayama H, Serra EG, Saglam H, Eren E, Tarim O, Nicholas AK, Zvetkova I, Anderson CA, Frankl FEK, Boelaert K, Ojaniemi M, Jääskeläinen J, Patyra K, Löf C and Schoenmakers N, (2018) Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI insight 3(20), e99631. https://doi.org/10.1172/jci.insight.99631

Schoenmakers E, Carlson B, Agostini M, Moran C, Rajanayagam O, Bochukova E, Tobe R, Peat R, Gevers E, Muntoni F, Guicheney P, Schoenmakers N, Farooqi S, Lyons G, Hatfield D and Chatterjee K (2016) Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis. The Journal of clinical investigation 126(3), 992–996. https://doi.org/10.1172/JCI84747

Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M and Chatterjee K (2010) Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. The Journal of clinical investigation 120(12):4220-35. https://doi.org/10.1172/JCI43653.

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