Dr Elena Bochukova
Senior Lecturer in Genomics
Blizard Institute
Queen Mary University of London
Queen Mary University of London
Research
obesity, metabolic disease, neurodevelopment, disease models, stem cell models, genetics
Interests
My laboratory main research interest is human obesity and related metabolic and neuropsychaitric conditions. In addition to human genetic and genomic studies, we as part of CPM, we apply 2D and 3D stem cell modelling and genome editing approaches to investigate molecular mechanisms of disease and potential novel drug targets.Publications
2025
Simvastatin suppresses spinal cord metastasis of medulloblastoma at clinically significant dosesCell Death & Disease, Springer Nature vol. 16 (1)
15-07-2025
2022
An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytesOgunkolade BW, Adaikalakoteswari A, Cardoso SR, Lowe R, Patel N, Rakyan V, Finer S, Wabitsch M et al.
Epigenetics
03-01-2022
2021
MC3R links nutritional state to childhood growth and the timing of pubertyNature, Springer Nature vol. 599 (7885), 436-441.
03-11-2021
Transcriptomics of the Prader–Willi syndrome hypothalamusBochukova EG
Handbook of Clinical Neurology, Elsevier vol. 181, 369-379.
01-01-2021
2020
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC TranscriptionCell Metabolism, Elsevier vol. 31 (6), 1107-1119.e12.
01-06-2020
2019
Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasisNature Communications, Springer Nature vol. 10 (1)
12-04-2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-DyskinesiaGorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E et al.
American Journal of Human Genetics, Elsevier vol. 104 (5), 948-956.
11-04-2019
Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death.Bergamaschi D, Vossenkamper A, Lee WYJ, Wang P, Bochukova E, Warnes G
Apoptosis
20-02-2019
Low-frequency variation in TP53 has large effects on head circumference and intracranial volumeHaworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C et al.
Nature Communications, Springer Nature vol. 10 (1)
21-01-2019
Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balancevan der Klaauw AA, Croizier S, de Oliveira EM, Stadler LKJ, Park S, Kong Y, Banton MC, Tandon P et al.
Cell, Elsevier vol. 176 (4), 729-742.e18.
17-01-2019
Exome Sequencing Identifies Multiple Genes and Gene-Sets Contributing to Severe Childhood ObesityMarenne G, Hendricks A, Perdikari A, Bounds R, Payne F, Keogh JM, Lelliott CJ, Henning E et al.
In Ssrn Electronic Journal
01-01-2019
2018
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi SyndromeBochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, Lo KK, Humphrey J et al.
Cell Reports, Elsevier vol. 22 (13), 3401-3408.
01-03-2018
2017
Central hypothyroidism with extrathyroidal features due to a partial X-chromosome deletion involving the TBL1X locusvan WE, Park S-M, Bochukova E, Nicholas AK, Lyons G, Chatterjee VK, Schoenmakers N
Endocrine Abstracts
30-10-2017
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety.Moir L, Bochukova EG, Dumbell R, Banks G, Bains RS, Nolan PM, Scudamore C, Simon M et al.
Molecular Metabolism, Elsevier vol. 6 (11), 1419-1428.
24-08-2017
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.Sci Rep, Macmillan Publishers Limited, Part of Springer Nature. vol. 7 (1), 4394-4394.
29-06-2017
2016
Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportSchmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J et al.
Nature Communications, Springer Nature vol. 7 (1)
29-03-2016
Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesisBOCHUKOVA EG
Journal of Clinical Investigation, American Society For Clinical Investigation
08-02-2016
2015
The UK10K project identifies rare variants in health and diseaseNature, Springer Nature vol. 526 (7571), 82-90.
14-09-2015
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panelNature Communications, Springer Nature vol. 6 (1)
14-09-2015
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transportSchmidts M, Hou Y, Cortés CR, Mans DA, Huber C, Boldt K, Patel M, van Reeuwijk J et al.
Nature Communications, Springer Nature vol. 6 (1)
05-06-2015
Whole-genome sequence-based analysis of thyroid functionTaylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA et al.
Nature Communications, Springer Nature vol. 6 (1)
06-03-2015
2014
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in EuropeansTimpson NJ, Walter K, Min JL, Tachmazidou I, Malerba G, Shin S-Y, Chen L, Futema M et al.
Nature Communications, Springer Nature vol. 5 (1)
16-09-2014
Functional Characterization of Obesity-Associated Variants Involving the α and β Isoforms of Human SH2B1Pearce LR, Joe R, Doche ME, Su H-W, Keogh JM, Henning E, Argetsinger LS, Bochukova EG et al.
Endocrinology, The Endocrine Society vol. 155 (9), 3219-3226.
27-06-2014
2013
KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel OxidationPearce LR, Atanassova N, Banton MC, Bottomley B, van der Klaauw AA, Revelli J-P, Hendricks A, Keogh JM et al.
Cell, Elsevier vol. 155 (4), 765-777.
01-11-2013
Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertensionAzizan EAB, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S et al.
Nature Genetics, Springer Nature vol. 45 (9), 1055-1060.
04-08-2013
Erratum: Rare variants in single-minded 1 (SIM1) are associated with severe obesity (Journal of Clinical Investigation (2013) 123:7 (3042-3050) DOI: 10.1172/JCI68016)Ramachandrappa S, Raimondo A, Cali AMG, Keogh JM, Henning E, Saeed S, Thompson A, Garg S et al.
Journal of Clinical Investigation vol. 123 (8)
01-08-2013
Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa S, Raimondo A, Cali AMG, Keogh JM, Henning E, Saeed S, Thompson A, Garg S et al.
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 123 (7), 3042-3050.
17-06-2013
Severe obesity and diabetes insipidus in a patient with PCSK1 deficiencyFrank GR, Fox J, Candela N, Jovanovic Z, Bochukova E, Levine J, Papenhausen PR, O'Rahilly S et al.
Molecular Genetics and Metabolism, Elsevier vol. 110 (1-2), 191-194.
17-04-2013
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesityWheeler E, Huang N, Bochukova EG, Keogh JM, Lindsay S, Garg S, Henning E, Blackburn H et al.
Nature Genetics, Springer Nature vol. 45 (5), 513-517.
07-04-2013
Erratum: Human SH2B1 mutations are associated with maladaptive behaviors and obesity (Journal of Clinical Investigation (2013) 123:1 (526) DOI: 10.1172/JCI68022)Doche ME, Bochukova EG, Su HW, Pearce LR, Keogh JM, Henning E, Cline JM, Dale A et al.
Journal of Clinical Investigation vol. 123 (1)
02-01-2013
Human SH2B1 mutations are associated with maladaptive behaviors and obesityDoche ME, Bochukova EG, Su H-W, Pearce LR, Keogh JM, Henning E, Cline JM, Dale A et al.
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 123 (1), 526-526.
02-01-2013
CNV Analysis in Tourette Syndrome Implicates Large Genomic Rearrangements in COL8A1 and NRXN1Nag A, Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona J, Rivas IC et al.
Plos One, Public Library of Science (Plos) vol. 8 (3)
01-01-2013
2012
Human SH2B1 mutations are associated with maladaptive behaviors and obesityDoche ME, Bochukova EG, Su H-W, Pearce LR, Keogh JM, Henning E, Cline JM, Saeed S et al.
Journal of Clinical Investigation, American Society For Clinical Investigation vol. 122 (12), 4732-4736.
19-11-2012
2011
A Mutation in the Thyroid Hormone Receptor Alpha GeneBochukova E, Schoenmakers N, Agostini M, Schoenmakers E, Rajanayagam O, Keogh JM, Henning E, Reinemund J et al.
New England Journal of Medicine, Massachusetts Medical Society vol. 366 (3), 243-249.
14-12-2011
2010
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F et al.
Nature, Springer Nature vol. 463 (7281), 671-675.
01-02-2010
2009
Large, rare chromosomal deletions associated with severe early-onset obesityBochukova EG, Huang N, Keogh J, Henning E, Purmann C, Blaszczyk K, Saeed S, Hamilton-Shield J et al.
Nature, Springer Nature vol. 463 (7281), 666-670.
06-12-2009
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosisBochukova EG, Soneji S, Wall SA, Wilkie AOM
Journal of Medical Genetics, Bmj vol. 47 (12)
15-09-2009
2008
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamilyBochukova EG, Roscioli T, Hedges DJ, Taylor IB, Johnson D, David DJ, Deininger PL, Wilkie AOM
Human Mutation, Hindawi vol. 30 (2), 204-211.
22-08-2008
2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L et al.
American Journal of Medical Genetics. Part A vol. 143 (16), 1941-1949.
15-08-2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis†Wilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan‐Eliya SV, Byren JC, Wall SA, Ramos L et al.
American Journal of Medical Genetics Part A, Wiley vol. 143A (16), 1941-1949.
09-07-2007
2006
Clinical dividends from the molecular genetic diagnosis of craniosynostosisWilkie AOM, Bochukova EG, Hansen RMS, Taylor IB, Rannan‐Eliya SV, Byren JC, Wall SA, Ramos L et al.
American Journal of Medical Genetics Part A, Wiley vol. 140A (23), 2631-2639.
12-07-2006
Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosisMerrill AE, Bochukova EG, Brugger SM, Ishii M, Pilz DT, Wall SA, Lyons KM, Wilkie AOM et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 15 (8), 1319-1328.
15-03-2006
2004
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndromeTwigg SRF, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AOM
Proceedings of The National Academy of Sciences of The United States of America, Proceedings of The National Academy of Sciences vol. 101 (23), 8652-8657.
27-05-2004
2003
Genomic studies of gene expression: regulation of the Wilson disease geneBochukova EG, Jefferson A, Francis MJ, Monaco AP
Genomics, Elsevier vol. 81 (6), 531-542.
01-06-2003
2001
Genes for autosomal recessive cerebellar ataxia: order from chaos?Nemeth AH, Dunne E, Bomont P, Moreira M, Bochukova E, Huson SM
01-01-2001
2000
Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34.Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ et al.
Am J Hum Genet vol. 67 (5), 1320-1326.
01-11-2000
Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34Németh AH, Bochukova E, Dunne E, Huson SM, Elston J, Hannan MA, Jackson M, Chapman CJ et al.
American Journal of Human Genetics, Elsevier vol. 67 (5), 1320-1326.
05-10-2000
1999
Characterisation of Candidate Gene for DYT3.Bochukova E
Electronic Journal of The International Federation of Clinical Chemistry and Laboratory Medicine vol. 11 (3), 70-73.
07-12-1999
Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)Németh AH, Nolte D, Dunne E, Niemann S, Kostrzewa M, Peters U, Fraser E, Bochukova E et al.
Genomics, Elsevier vol. 60 (3), 320-329.
01-09-1999
Molecular study of spinal muscular atrophy patients with hybrid genes in BulgariaKremensky I, Jankova S, Uzunova M, Litvinenko I
Journal of Inherited Metabolic Disease, Wiley vol. 22 (3), 322-326.
01-05-1999
Grants
Genetic determinants of behavioral physical and physiological characteristics of PWSElena Bochukova
£196,684 Foundation for Prader-Willi Research (USA)
01-03-2022 - 01-09-2026
Soleno TherapeuticsElena Bochukova and Patricia Munroe
£159,134 Soleno Therapeutics Inc Soleno Therapeutics Inc.,
01-03-2021 - 31-12-2026
Genetic and epigenetic investigation of the relationship between obesity and psychiatric disordersElena Bochukova
£169,168 Pfizer Global Pharmaceuticals
01-06-2022 - 30-06-2025
Genotype to phenotype:understanding how our genome leads to variability in the Prader-Willi syndromeElena Bochukova
£20,000 PRADER-WILLI SYNDROME ASSOCIATION UK
01-10-2021 - 30-09-2023
From obesity genes to disease mechanismsElena Bochukova and Sarah Finer
£436,246 Barts and the London Charity
01-02-2020 - 31-12-2024
Uncovering novel, rare genetic causes of type 2 diabetes in people of Bangladeshi & Pakistani heritage participating in East London Genes & HealthSarah Finer, Graham Hitman and Elena Bochukova
£19,771 Diabetes Research & Wellness Foundation
01-10-2018 - 31-12-2020
Modelling neurodevelopmental and molecular mechanisms of human genetic obesityElena Bochukova
£99,999 Wellcome Trust
01-12-2017 - 30-11-2019