Professor Márta Korbonits
Professor in Endocrinology and Deputy Director of the WHRI
Email: firstname.lastname@example.orgTelephone: +44(0) 20 7882 6238
ORCID iD: https://orcid.org/0000-0002-4101-9432
Márta Korbonits graduated in Medicine in Budapest and undertook her early clinical training at the Internal Medicine Department of the Postgraduate Medical School, Budapest. She joined the Department of Endocrinology at St. Bartholomew’s Hospital under the mentorship of Professors Ashley Grossman and Michael Besser. Her MD and later PhD studies contributed to the understanding of the effects of growth hormone secretagogues on hypothalamic hormone release and the nature and causes of pituitary tumorigenesis. She was awarded an MRC Clinician Scientist Fellowship and commenced studies that produced novel insights into ghrelin physiology and genetics. Her findings related to the regulation of the metabolic enzyme AMPK by ghrelin, cannabinoid and glucocorticoid opened a new aspect of hormonal regulation of metabolism. In 2008, Márta Korbonits was promoted to Professor of Endocrinology and Metabolism and since 2012, has led the Centre of Endocrinology at Barts and the London School of Medicine. In 2016, Márta Korbonits was appointed a Deputy Head of the William Harvey Research Institute.
Professor Korbonits continues to integrate human studies alongside with laboratory-based research and has pioneered several projects in translational medicine. Over the last decade, her major research focus involves the clinical and scientific aspects of familial isolated pituitary adenomas. In addition to her basic research, she looks after patients with endocrine diseases in St. Bartholomew’s Hospital and undertakes wide-ranging undergraduate and postgraduate teaching activities as well as supervision of MSc and PhD students. Professor Korbonits has received several awards, including the Nicholas T. Zervas Lectureship in Pituitary and Neuroendocrine Disorders at Massachusetts General Hospital (2010), the Society for Endocrinology Medal (2013), the Endocrine Society’s Delbert Fischer award (2015), the Hadden Lecture Prize, Irish Endocrine Society (2017), the Harrison Lecture Prize, Endocrine Society of Australia (2017) and the Estelle Wolfson award from the Royal College of Physicians (2018). She supports the endocrine community’s learned societies: served as the Conference Program Secretary for the Society for Endocrinology, was Board member for Pituitary Society and European Neuroendocrine Society and Chair of the Science Committee of the European Society of Endocrinology. She is a current or past Editorial Board member of the Journal of Clinical Endocrinology and Metabolism, Journal and Neuroendocrinology, Pituitary and Journal of Endocrinology and Associate Editor of Scientific Reports, Annals of Human Genetics and the Journal of the Endocrine Society. She is a member of the Medical Research Council (MRC) Fellowship Committee.
Dr Donato Iacovazzo (Diabetes UK Clinical Training Fellow); Ms Karen Young (MRC Clinical Training Fellow); Mr Solomon Muna (Clinical Fellow); Dr David Collier (Database Manager); Dr Nicola Tufton (Clinical Training Fellow); Dr Pedro Marquez (Clinical Training Fellow); Dr Sayka Barry (Postdoctoral Fellow); Dr Chung Lim (Clinical Training Fellow); Dr Sherine Awad (Postdoctoral Fellow); Ms Lilli Vignola (Research Assistant); Mr Stavros Fotiadis (EU grant manager).
Selected Past Lab Members
Dr Blerina Kola (Clinical Training Fellow); Dr Chrysanthia Leontiou (PhD student); Dr Craig Stiles (Wellcome Clinical Training Fellow); Dr Daniela Aflorei (Clinical Training Fellow); Dr Edwin Garcia (Postdoctoral Fellow); Dr Francesco Ferrau (Visiting Clinical Fellow); Dr Giampaolo Trivellin (Postdoctoral Fellow); Dr Harvinder Chahal (MRC Clinical Training Fellow); Dr Erika Hubina (Clinical Training Fellow); Dr Ida Pernicova (Clinical Training Fellow); Dr Julia Thomas (Clinical Training Fellow); Dr Laura Hernandez-Ramirez (Clinical Training Fellow); Dr Marton Doleschall (Postdoctoral Fellow); Dr Mirjam Christ-Crain (Clinical Training Fellow); Dr Pam Gabrovska (Database Manager); Dr Serban Radian (Marie Curie Research Fellow), Alejandro Ibanez Costa (Postdoctoral Fellow), Dr Antonia Solomou (Postdoctoral Fellow).
Pituitary and Neuroendocrine Group
Prof Korbonits’ research group concentrates on the etiology and tumorigenic process of familial and sporadic pituitary adenomas. She set up the International FIPA consortium and studies the clinical, genetic and molecular characteristics of these patients. The groups’ major focus concerns the mechanism by which loss-of-function AIP mutations cause particularly aggressive adenomas at a young age, studies centred around the analysis of human samples and new in vivo models of human disease (in collaboration with Carles Gaston-Massuet), including in the fruit fly. In parallel, in vitro assays are helping to complete the cycle of pituitary adenoma variant identification to pathological understanding of disease etiologies.
The group has shown that an AIP mutation (Arg304Stop) that was introduced into the DNA of a resident of Northern Ireland some 2500 years ago helps explain the long history of Irish giants (Figure 1). Their genetic studies, which have established that this founder mutation still survives in this population today (Figure 2), provides an excellent example of how genetic screening, followed by clinical screening of carrier family members can identify pre-symptomatic patients, leading to earlier diagnosis and more personalized treatment and a better long-term prognosis. The group are now investigating a second founder mutation due to replication slippage mechanism (Figure 3) affecting nine families living in three different countries (UK, France and USA) but all originating from a single founder probably in England from several hundred years ago (Figure 4).
Figure 1. AIP Mutations and Gigantism. First panel. 18th century patient with gigantism due to a mutation of AIP (aryl hydrocarbon receptor interacting protein) beside his twin cousins who also had gigantism, in an etching by John Kay (1742–1826) (National Portrait Gallery, London) (Chahal, NEJM, 2011). Middle panel. Ribbon representation of the crystal structure of human AIP (based on data published in Morgan, PlosOne, 2012 and Linnert, Biomol.NMR Assign., 2012) with the stop mutation from the 18th-century patient marked in red. Right-hand panel. A hand of a 4th-year male medical student (172 cm tall) compared to the tracing of the hand of an Irish patient from the 18th century with gigantism (tracing from Frankom, G; Musgrave, J.H. The Irish giant, 1974, Duckworth, London).
Figure 2. In Ireland, the highest geographical concentration of the Irish Giant AIP R304* allele is found in Mid Ulster (red dotted line). R304* carriers: unaffected (green columns) and patients with somatotrophinomas (red). AIPmut-negative patients with somatotrophinomas (AIP-neg GH, blue columns). Only current residents of Ireland were screened. R304*-positive patients with other pituitary adenoma types (n=5) are not shown. Each small graph summarizes data from the underlying region. From Radian S et al, Human Mutation 2017.
Figure 3. In-frame seven amino acid duplication of aryl hydrocarbon receptor protein (AIP) reduces protein stability and interaction with Heat Shock Protein 90 (HSP90)
A) Schematic of the suggested replication slippage mechanism creating the c.805_825dup, p.F269_H275duplication. The purple and blue colorings match the sequences in B). During DNA replication, the primer strand containing the newly synthesized second repeat transiently dissociates from the template, slips backwards and then re-associates at the first short direct repeat of the template strand, resulting in a misaligned configuration. Continued DNA synthesis is envisaged to lead to the insertion of the intervening sequence and the second direct repeat, resulting in the duplicated allele.
B) DNA sequences of WT AIP (bottom) and of the mutated allele (top). N.B. the two 9 base-pair long repeats, the 5’ one marked in purple (caaggcctac) and the 3’ one marked in blue (caaggcccac). The duplicated sequence (italic) introduces additional amino acids in the protein binding domain TPR3.
C) Cartoon representation of the atomic structure of AIP, highlighting the two pairs of helices forming the TPR2 (light orange) and TPR3 protein binding domains.
D) Close up of structures mediating binding between WT AIP and HSP90 (blue peptide) and simulation of the effect of the seven amino-acid AIP duplication (purple) on the AIP structure mediating HSP90 binding. Residue K266 (green), in the wild-type AIP interacts with the HSP90 peptide (or with TOMM20 peptide). From Salvatori EJE 2017.
Figure 4. Pedigrees of the English founder AIP c.805_825dup (p.F269_H275dup) mutation and geographical locations. From Salvatori EJE 2017.
For a full list of publist publications click here
- Hernandez-Ramirez, L.C., Morgan, R.M.L., Barry, S., D'Acquisto, F., Prodromou, C. & Korbonits, M. (2018) Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland. Oncotarget 9, 9177-9198.
- Caimari, F., Hernandez-Ramirez, L.C., Dang, M.N., Gabrovska, P., Iacovazzo, D., Stals, K., Ellard, S., Korbonits, M. & International, F.c. (2018) Risk category system to identify pituitary adenoma patients with AIP mutations. Journal of Medical Genetics 55, 254-260.
- Aflorei, E.D., Klapholz, B., Chen, C., Radian, S., Dragu, A.N., Moderau, N., Prodromou, C., Ribeiro, P.S., Stanewsky, R. & Korbonits, M. (2018) In vivo bioassay to test the pathogenicity of missense human AIP variants. Journal of Medical Genetics.
- Iacovazzo, D., Flanagan, S.E., Walker, E., Quezado, R., de Sousa Barros, F.A., Caswell, R., Johnson, M.B., Wakeling, M., Brandle, M., Guo, M., Dang, M.N., Gabrovska, P., Niederle, B., Christ, E., Jenni, S., Sipos, B., Nieser, M., Frilling, A., Dhatariya, K., Chanson, P., de Herder, W.W., Konukiewitz, B., Kloppel, G., Stein, R., Korbonits, M. & Ellard, S. (2018) MAFA missense mutation causes familial insulinomatosis and diabetes mellitus. Proceedings of the National Academy of Sciences of the United States of America 115, 1027-1032.
- Marques, P., Spencer, R., Morrison, P.J., Carr, I.M., Dang, M.N., Bonthron, D.T., Hunter, S. & Korbonits, M. (2018) Cantu syndrome with coexisting familial pituitary adenoma. Endocrine 59, 677-684.
- Salvatori, R., Radian, S., Diekmann, Y., Iacovazzo, D., David, A., Gabrovska, P., Grassi, G., Bussell, A.M., Stals, K., Weber, A., Quinton, R., Crowne, E.C., Corazzini, V., Metherell, L., Kearney, T., Du Plessis, D., Sinha, A.K., Baborie, A., Lecoq, A.L., Chanson, P., Ansorge, O., Ellard, S., Trainer, P.J., Balding, D., Thomas, M.G. & Korbonits, M. (2017) In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. European Journal of Endocrinology 177, 257-266.
- Thomas, J.D.J., Dattani, A., Zemrak, F., Burchell, T., Akker, S.A., Kaplan, F.J.L., Khoo, B., Aylwin, S., Grossman, A.B., Davies, L.C. & Korbonits, M. (2017) Renin-Angiotensin System Blockade Improves Cardiac Indices in Acromegaly Patients. Experimental and Clinical Endocrinology and Diabetes 125, 365-367.
- Tufton, N., Roncaroli, F., Hadjidemetriou, I., Dang, M.N., Denes, J., Guasti, L., Thom, M., Powell, M., Baldeweg, S.E., Fersht, N. & Korbonits, M. (2017) Pituitary Carcinoma in a Patient with an SDHB Mutation. Endocrine Pathology.
- Thomas, J.D., Dattani, A., Zemrak, F., Burchell, T., Akker, S.A., Gurnell, M., Grossman, A.B., Davies, L.C. & Korbonits, M. (2016) Characterisation of myocardial structure and function in adult-onset growth hormone deficiency using cardiac magnetic resonance. Endocrine 54, 778-787.
- Radian, S., Diekmann, Y., Gabrovska, P., Holland, B., Bradley, L., Wallace, H., Stals, K., Bussell, A.M., McGurren, K., Cuesta, M., Ryan, A.W., Herincs, M., Hernandez-Ramirez, L.C., Holland, A., Samuels, J., Aflorei, E.D., Barry, S., Denes, J., Pernicova, I., Stiles, C.E., Trivellin, G., McCloskey, R., Ajzensztejn, M., Abid, N., Akker, S.A., Mercado, M., Cohen, M., Thakker, R.V., Baldeweg, S., Barkan, A., Musat, M., Levy, M., Orme, S.M., Unterlander, M., Burger, J., Kumar, A.V., Ellard, S., McPartlin, J., McManus, R., Linden, G.J., Atkinson, B., Balding, D.J., Agha, A., Thompson, C.J., Hunter, S.J., Thomas, M.G., Morrison, P.J. & Korbonits, M. (2017) Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland. Human Mutation 38, 78-85.
- Iacovazzo, D., Caswell, R., Bunce, B., Jose, S., Yuan, B., Hernandez-Ramirez, L.C., Kapur, S., Caimari, F., Evanson, J., Ferrau, F., Dang, M.N., Gabrovska, P., Larkin, S.J., Ansorge, O., Rodd, C., Vance, M.L., Ramirez-Renteria, C., Mercado, M., Goldstone, A.P., Buchfelder, M., Burren, C.P., Gurlek, A., Dutta, P., Choong, C.S., Cheetham, T., Trivellin, G., Stratakis, C.A., Lopes, M.B., Grossman, A.B., Trouillas, J., Lupski, J.R., Ellard, S., Sampson, J.R., Roncaroli, F. & Korbonits, M. (2016) Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathologica Communications 4, 56.
- Hernández-Ramírez, L.C., Martucci, F., Morgan, R.M., Trivellin, G., Tilley, D., Ramos-Guajardo, N., Iacovazzo, D., D'Acquisto, F., Prodromou, C. & Korbonits, M. (2016) Rapid proteasomal degradation of mutant proteins is the primary mechanism leading to tumorigenesis in patients with missense AIP mutations. Journal of Clinical Endocrinology and Metabolism 101, 3144-3154.
- Rodd, C., Millette, M., Iacovazzo, D., Stiles, C.E., Barry, S., Evanson, J., Albrecht, S., Caswell, R., Bunce, B., Jose, S., Trouillas, J., Roncaroli, F., Sampson, J., Ellard, S. & Korbonits, M. (2016) Somatic GPR101 Duplication Causing X-Linked Acrogigantism (XLAG)-Diagnosis and Management. Journal of Clinical Endocrinology and Metabolism 101, 1927-1930.
- Iacovazzo, D., Carlsen, E., Lugli, F., Chiloiro, S., Piacentini, S., Bianchi, A., Giampietro, A., Mormando, M., Clear, A.J., Doglietto, F., Anile, C., Maira, G., Lauriola, L., Rindi, G., Roncaroli, F., Pontecorvi, A., Korbonits, M. & De Marinis, L. (2016) Factors predicting pasireotide responsiveness in somatotroph pituitary adenomas resistant to first-generation somatostatin analogues: an immunohistochemical study. European Journal of Endocrinology 174, 241-250.
- Ribeiro-Oliveira, A., Jr., Marques, M.B., Vilas-Boas, W.W., Guimaraes, J., Coimbra, C.C., Anjos, A.P., Foscolo, R.B., Santos, R., Thomas, J.D., Igreja, S.M., Kola, B., Grossman, A.B. & Korbonits, M. (2015) The effects of chronic candesartan treatment on cardiac and hepatic adenosine monophosphate-activated protein kinase in rats submitted to surgical stress. Journal of the Renin-Angiotensin-Aldosterone System 16, 481-487.
- Hernández-Ramírez, L.C., Gabrovska, P., Dénes, J., Stals, K., Trivellin, G., Tilley, D., Ferraù, F., Evanson, J., Ellard, S., Grossman, A.B., Roncaroli, F., Gadelha, M.R., Korbonits, M. & Consortium., T.I.F. (2015) Landscape of familial isolated and young-onset pituitary adenomas: prospective diagnosis in AIP mutation carriers. Journal of Clinical Endocrinology and Metabolism 100, E1242-1254.
- Perez-Rivas, L.G., Theodoropoulou, M., Ferrau, F., Nusser, C., Kawaguchi, K., Stratakis, C.A., Faucz, F.R., Wildemberg, L.E., Assie, G., Beschorner, R., Dimopoulou, C., Buchfelder, M., Popovic, V., Berr, C.M., Toth, M., Ardisasmita, A.I., Honegger, J., Bertherat, J., Gadelha, M.R., Beuschlein, F., Stalla, G., Komada, M., Korbonits, M. & Reincke, M. (2015) The gene of the ubiquitin-specific protease 8 is frequently mutated in adenomas causing Cushing's disease. Journal of Clinical Endocrinology and Metabolism 100, E997-1004.
- Dénes, J., Kasuki, L., Trivellin, G., Colli, L.M., Takiya, C.M., Stiles, C.E., Barry, S., De Castro, M., Gadelha, M.R. & Korbonits, M. (2015) Regulation of aryl hydrocarbon receptor interacting protein (AIP) protein expression by miR-34a in sporadic somatotropinomas. PloS One 10, e0117107.
- Dénes, J., Swords, F., Rattenberry, E., Stals, K., Owens, M., Cranston, T., Xekouki, P., Moran, L., Kumar, A., Wassif, C., Fersht, N., Baldeweg, S.E., Morris, D., Lightman, S., Agha, A., Rees, A., Grieve, J., Powell, M., Boguszewski, C.L., Dutta, P., Thakker, R.V., Srirangalingam, U., Thompson, C.J., Druce, M., Higham, C., Davis, J., Eeles, R., Stevenson, M., O'Sullivan, B., Taniere, P., Skordilis, K., Gabrovska, P., Barlier, A., Webb, S.M., Aulinas, A., Drake, W.M., Bevan, J.S., Preda, C., Dalantaeva, N., Ribeiro-Oliveira, A., Jr., Tena, G., I, Yordanova, G., Iotova, V., Evanson, J., Grossman, A.B., Trouillas, J., Ellard, S., Stratakis, C.A., Maher, E.R., Roncaroli, F. & Korbonits, M. (2015) Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma - results from a large patient cohort. Journal of Clinical Endocrinology and Metabolism 100, E531-E541.
- Larkin, S.J., Ferraù, F., Karavitaki, N., Hernández-Ramírez, L.C., Ansorge, O., Grossman, A.B. & Korbonits, M. (2014) Sequence analysis of the catalytic subunit of PKA in somatotroph adenomas. European Journal of Endocrinology 171, 705-710.
- Garcia, E.A., Trivellin, G., Aflorei, E.D., Powell, M., Grieve, J., Alusi, G., Pobereskin, L., Shariati, B., Cudlip, S., Roncaroli, F., Mendoza, N., Grossman, A.B., Harper, E.A. & Korbonits, M. (2013) Characterization of SNARE proteins in human pituitary adenomas: targeted secretion inhibitors as a new strategy for the treatment of acromegaly? Journal of Clinical Endocrinology and Metabolism 98, E1918-E1926.
- Williams, F., Hunter, S., Bradley, L., Chahal, H.S., Storr, H., Akker, S.A., Kumar, A.V., Orme, S.M., Evanson, J., Morrison, P.J., Korbonits, M. & Atkinson, A.B. (2014) Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation. Journal of Clinical Endocrinology and Metabolism 99, 1122-1131.
- Kola, B., Wittman, G., Bodnar, I., Amin, F., Lim, C.T., Olah, M., Christ-Crain, M., Lolli, F., van, T.H., Leontiou, C.A., Fuzesi, T., Dalino, P., Isidori, A.M., Harvey-White, J., Kunos, G., Nagy, G.M., Grossman, A.B., Fekete, C. & Korbonits, M. (2013) The CB1 receptor mediates the peripheral effects of ghrelin on AMPK activity but not on growth hormone release. FASEB Journal 27, 5112-5121.
- Trivellin, G., Butz, H., Delhove, J., Igreja, S., Chahal, H.S., Zivkovic, V., McKay, T., Patocs, A., Grossman, A.B. & Korbonits, M. (2012) MicroRNA miR-107 is overexpressed in pituitary adenomas and in vitro inhibits the expression of aryl hydrocarbon receptor-interacting protein (AIP). American Journal of Physiology: Endocrinology and Metabolism 303, E708-E719.
- Marques, M.B., Ribeiro-Oliveira, A., Jr., Guimaraes, J., Nascimento, G.F., Anjos, A.P., Vilas-Boas, W.W., Santos, R.A., Thomas, J.D., Grossman, A.B., Kola, B. & Korbonits, M. (2012) Modifications in basal and stress-induced hypothalamic AMP-activated protein kinase (AMPK) activity in rats chronically treated with an angiotensin II receptor blocker. Stress 15, 554-561.
- Chahal, H.S., Trivellin, G., Leontiou, C.A., Alband, N., Fowkes, R.C., Tahir, A., Igreja, S.C., Chapple, J.P., Jordan, S., Lupp, A., Schulz, S., Ansorge, O., Karavitaki, N., Carlsen, E., Wass, J.A., Grossman, A.B. & Korbonits, M. (2012) Somatostatin analogs modulate AIP in somatotroph adenomas: the role of the ZAC1 pathway. Journal of Clinical Endocrinology and Metabolism 97, E1411-E1420.
- Chahal, H.S., Stals, K., Unterlander, M., Balding, D.J., Thomas, M.G., Kumar, A.V., Besser, G.M., Atkinson, A.B., Morrison, P.J., Howlett, T.A., Levy, M.J., Orme, S.M., Akker, S.A., Abel, R.L., Grossman, A.B., Burger, J., Ellard, S. & Korbonits, M. (2011) AIP mutation in pituitary adenomas in the 18th century and today. New England Journal of Medicine 364, 43-50.
- Igreja, S., Chahal, H.S., King, P., Bolger, G.B., Srirangalingam, U., Guasti, L., Chapple, J.P., Trivellin, G., Gueorguiev, M., Guegan, K., Stals, K., Khoo, B., Kumar, A.V., Ellard, S., Grossman, A.B. & Korbonits, M. (2010) Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Human Mutation 31, 950-960.
- Gueorguiev, M., Lecoeur, C., Benzinou, M., Mein, C.A., Meyre, D., Vatin, V., Weill, J., Heude, B., Grossman, A.B., Froguel, P. & Korbonits, M. (2009) A genetic study of the ghrelin and growth hormone secretagogue receptor (GHSR) genes and stature. Annals of Human Genetics 73, 1-9.
- Igreja, S., Chahal, H.S., Akker, S.A., Gueorguiev, M., Popovic, V., Damjanovic, S., Burman, P., Wass, J.A., Quinton, R., Grossman, A.B. & Korbonits, M. (2009) Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. Clinical Endocrinology 70, 259-264.
- Kola, B., Christ-Crain, M., Lolli, F., Arnaldi, G., Giacchetti, G., Boscaro, M., Grossman, A.B. & Korbonits, M. (2008) Changes in adenosine 5'-monophosphate-activated protein kinase as a mechanism of visceral obesity in Cushing's syndrome. Journal of Clinical Endocrinology and Metabolism 93, 4969-4973.
- Leontiou, C.A., Gueorguiev, M., van der Spuy, J., Quinton, R., Lolli, F., Hassan, S., Chahal, H.S., Igreja, S.C., Jordan, S., Rowe, J., Stolbrink, M., Christian, H.C., Wray, J., Bishop-Bailey, D., Berney, D.M., Wass, J.A., Popovic, V., Ribeiro-Oliveira, A., Jr., Gadelha, M.R., Monson, J.P., Akker, S.A., Davis, J.R., Clayton, R.N., Yoshimoto, K., Iwata, T., Matsuno, A., Eguchi, K., Musat, M., Flanagan, D., Peters, G., Bolger, G.B., Chapple, J.P., Frohman, L.A., Grossman, A.B. & Korbonits, M. (2008) The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 93, 2390-2401.
- Kola, B., Farkas, I., Christ-Crain, M., Wittmann, G., Lolli, F., Amin, F., Harvey-White, J., Liposits, Z., Kunos, G., Grossman, A.B., Fekete, C. & Korbonits, M. (2008) The orexigenic effect of ghrelin is mediated through central activation of the endogenous cannabinoid system. PloS One 3, e1797.
- Christ-Crain, M., Kola, B., Lolli, F., Fekete, C., Seboek, D., Wittmann, G., Feltrin, D., Igreja, S.C., Ajodha, S., Harvey-White, J., Kunos, G., Muller, B., Pralong, F., Aubert, G., Arnaldi, G., Giacchetti, G., Boscaro, M., Grossman, A.B. & Korbonits, M. (2008) AMP-activated protein kinase mediates glucocorticoid-induced metabolic changes: a novel mechanism in Cushing's syndrome. FASEB Journal 22, 1672-1683.
- Garcia, E., King, P., Sidhu, K., Ohgusu, H., Walley, A., Lecoeur, C., Gueorguiev, M., Khalaf, S., Davies, D., Grossman, A.B., Kojima, M., Petersenn, S., Froguel, P. & Korbonits, M. (2009) The role of ghrelin and ghrelin receptor gene variants and promoter activity in type 2 diabetes. European Journal of Endocrinology 161, 307-315.
- Garcia, E.A., Heude, B., Petry, C.J., Gueorguiev, M., Hassan-Smith, Z.K., Spanou, A., Ring, S.M., Dunger, D.B., Wareham, N., Sandhu, M.S., Ong, K.K. & Korbonits, M. (2008) Ghrelin receptor gene polymorphisms and body size in children and adults. Journal of Clinical Endocrinology and Metabolism 93, 4158-4161.
- Ribeiro-Oliveira, A., Jr., Franchi, G., Kola, B., Dalino, P., Pinheiro, S.V., Salahuddin, N., Musat, M., Góth, M.I., Czirjak, S., Hanzély, Z., da Silva, D.A., Jr, P.E., Grossman, A.B. & Korbonits, M. (2008) Protein western array analysis in human pituitary tumours: insights and limitations. Endocrine-Related Cancer 15, 1099-1114.
- Gueorguiev, M., Wiltshire, S., Garcia, E.A., Mein, C., Lecoeur, C., Kristen, B., Allotey, R., Hattersley, A.T., Walker, M., O'Rahilly, S., Froguel, P., Grossman, A.B., McCarthy, M.I., Hitman, G.A. & Korbonits, M. (2007) Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes. Journal of Clinical Endocrinology and Metabolism 92, 2201-2204.
- Kola, B., Hubina, E., Tucci, S.A., Kirkham, T.C., Garcia, E.A., Mitchell, S.E., Williams, L.M., Hawley, S.A., Hardie, D.G., Grossman, A.B. & Korbonits, M. (2005) Cannabinoids and ghrelin have both central and peripheral metabolic and cardiac effects via AMP-activated protein kinase. Journal of Biological Chemistry 280, 25196-25201.
- January 2018
New gene causing diabetes and insulinomatosis
- September 2016
Genes of Irish giant still writ large in Ulster
The Sunday Times
- January 2011
Genes of an 18th century ‘giant’ could change the lives of 21st-century patients