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Roles of GWA genes in controlling pancreatic beta cell function and mass.

Lead Research Organisation: Imperial College London
Department Name: Dept of Medicine

Abstract

Diabetes mellitus affects more than 20 m Europeans and 300 m individuals worldwide. The complications of the disease, including blindness, kidney failure, cardiovascular disease and cancer, drastically reduce the quality of life of sufferers, and consume almost 10 % of health care costs in most westernised nations. The most common form, Type 2 diabetes (T2D), has both genetic and environmental causes, and is particularly prevalent in the overweight. Insulin is the chief "anabolic" hormone responsible for restoring blood sugar levels after a meal and its absence - as well as a failure to act appropriately in T2D - underlies the symptoms of this disease.

Therapeutic approaches towards T2D have relied in the past on enhancing the actions of insulin, and more recently on stimulating insulin secretion. However, none of the existing therapies reverse the progressive loss of functional beta cells and hence the gradual worsening of disease symptoms. New strategies aimed at restoring an adequate number of normally functioning beta-cells are thus urgently sought.

Studies made possible by the human genome project, completed in 2000, and the subsequent mapping of genetic variants (single nucleotide polymorphisms) in man have permitted in the last four years "Genome wide association studies" (GWAS) for T2D. These have identified several genetic variants whose inheritance is associated with an increased risk of diabetes. The identification of these genes, most of which influence insulin production, provides both improved powers of prediction and, just as excitingly, potential new molecular targets for drug treatment.

Our proposed studies will involve two complementary areas aimed at obtaining a fuller understanding of how a subset of T2D genes affect disease risk. Our first aim is to examine in detail the role in the pancreatic beta cell of five genes identified at two novel GWAS "loci" in the human genome. We shall use both a new mouse model engineered to allow genes of interest to be selectively deleted in the pancreatic beta cell, and classical biochemical and mouse genetic approaches to examine the roles of the implicated gene products.

Secondly, we seek to examine the means through which a tumour suppressor termed LKB1, which controls beta cell growth, may be modulated by two relatively well-studied GWA genes for T2D. Inactivation of LKB1 in man leads to a rare form of cancer termed Peutz-Jeghers syndrome. Remarkably, when the LKB1 gene is deleted selectively in the beta cell, mutant mice experience a substantial expansion in beta cell mass and enjoy increased insulin production and improved glucose homeostasis. Importantly, insulin release only occurs when blood glucose levels are high, avoiding the risk of a dangerous "undershoot" in glucose (hypoglycaemia). Here, we shall dissect the signalling pathways lying downstream of LKB1, and explore the potential roles of the GWA genes TCF7L2 and SLC30A8.

Technical Summary

Type 2 diabetes (T2D) represents an epidemic of the 21 st century and consumes almost 10 % of the health care budgets in westernised societies. Progressive pancreatic beta cell failure is a sine qua non for the development of the disease. Whilst diabetes risk is markedly increased by factors including obesity, T2D shows a strong element of heritability. Correspondingly, recent genome wide association studies have identified loci affecting disease risk, the majority of which alter insulin production rather than action.

Our laboratories have been in the vanguard of those seeking to dissect the underlying molecular mechanisms. Under Aim 1, we will explore the roles in the beta cell of five genes found at two novel risk loci, selected for study using defined criteria. The first locus, close to a single nucleotide polymorphism (SNP) on chromosome 11, includes two genes: CENTD2, encoding the GTPase activating protein Arap1, and STARD10 encoding a phospholipid transfer protein of presently unknown function. The second locus, on chromosome 9, encodes a cluster of genes implicated in cell cycle control: CDKN2A, CDKN2B and p14Arf, and a non-coding RNA termed ANRIL predicted to regulate the expression of the three former genes. In each case we shall use newly-available human beta cell lines, primary mouse and human islets, and a novel transgenic mouse (INS-Tva) which allows targeted delivery of shRNAs/miRNAs or cDNAs to the beta cell in vivo. In Aim 2 we shall dissect the mechanisms of action of the tumour suppressor LKB1, whose deletion in the beta cell causes a considerable increase in beta cell mass and enhances insulin release. We shall focus on the downstream roles of two well-established GWA genes: TCF7L2, a target of Wnt signalling, and SLC30A8, encoding the secretory granule zinc transporter ZnT8. The Programme will thus provide important insights into the mechanisms controlling beta cell mass and function, and potentially new avenues for therapy.

Planned Impact

Impact Summary
The research proposed here is likely to benefit both the general population, in terms of improvements in healthcare, as well as the UK Pharmaceutical industry.

1. The general population of the UK. Type 2 diabetes affects ~3 m UK subjects and ~30 m Europeans (mean prevalence 8.4%; http://www.euphix.org/object_document/o4858n27165.html). These values are predicted to grow further in an "epidemic" driven by increasingly sedentary lifestyles and obesity. The complications of the disease include stroke, retinopathy, neuropathy, renal failure, cardiovascular disease and now cancer. The increased prevalence of this disease was recently predicted to contribute to a lowered overall life expectancy in the UK (http://www.independent.co.uk/life-style/health-and-wellbeing/health-news/diabetes-may-cause-first-fall-in-life-expectancy-for-200-years-966914.html) for the first time in 200 years. Treatment of diabetes is estimated to cost ~£8000 per year per patient, or £ 24 billion in total: diabetic patients are 3.5 times more likely to be admitted for hospital treatment than the rest of the population (http://www.physorg.com/news151077389.html). These direct economic costs together account for 7-13 % of health care costs in most developed societies (IDF Diabetes Atlas, 2003) and are further aggravated by increased absenteeism and decreased individual productivity (ADA: Diabetic Care 31, 596, 2008).

Pancreatic beta-cell loss or dysfunction are cardinal elements of diabetes mellitus, and strategies to rejuvenate or replace these cells, as explored here, are likely to be key to the development of new therapeutic approaches for this disease and its complications.
In particular this work will address roadblocks in diabetes research as identified recently by the European Commission's Support Action "DIAMAP: A Road Map for Diabetes in Europe" (http://www.diamap.eu/; 7th Sep, 2010) including the development of: "novel therapies based on beta cell mass and function" and "a lack of appropriate models that mimic the human condition".

2. The UK Pharmaceutical Industry. The global market for anti-diabetes drugs is estimated to be worth ~$30 billion. Following its joint Workshop with the Association of British Pharmaceutical Industries (ABPI) in March 2011, the MRC concluded that pancreatic beta cell biology should become a Strategic Priority, alongside Stratified Medicine. The present application addresses both of these areas.

New drug targets and leads are desperately needed for the Pharmaceutical industry to produce novel approaches to diabetes treatment. By addressing highly promising new targets, including those identified by GWA screens, and others likely to contribute to beta cell dysfunction, the proposed study will enhance feeds of new Intellectual Property to this sector. As a member of the trans-European diabetes research network "IMIDIA" (http://www.imidia.org/) the PI already interacts with several UK and Europe-based companies (eg Astra Zeneca, Sanofi Aventis, Boehringer-Ingelheim, Novo Nordisk and Novartis), and has established a collaboration with Pfizer (US) to initiate high throughput screens for small molecule regulators of LKB1, which may control beta cell mass. Similarly, with Cenix, an SME based in Dresden, he has begun a collaboration to use genome-wide RNAis screens to identify endogenous regulators of GWA genes including TCF7L2 and ZnT8.

Each of the three research fellows directly involved in the project will enhance their professional skills with training in basic biomedical research and thus develop their skill set for application in both the academic and commercial sectors.

Organisations

 
Title Islet Connectivity 
Description Microscope images collected from our works on connectivity were combined and organized by L. Delgadillo 
Type Of Art Artwork 
Year Produced 2023 
Impact The image was submitted to a photo contest in CRCHUM and won. It is exposed since then on one of the wall of communal space in CRCHUM for an undeterminated time. 
 
Description A confocal platform for pancreatic islet phenotyping in vitro and in vivo.
Amount £208,000 (GBP)
Funding ID 098424/Z/12/A 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2015 
End 12/2017
 
Description All-optical deconstruction of the islet wiring patterns underlying insulin secretion in health and disease
Amount £460,142 (GBP)
Funding ID MR/N00275X/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 03/2016 
End 06/2019
 
Description BBSRC
Amount £622,745 (GBP)
Funding ID BB/J015873/1 
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 08/2012 
End 10/2015
 
Description Beta-cell adaptation to puberty and type 2 diabetes risk
Amount $150,705 (CAD)
Funding ID RF_0cfe06c566bc9ed 
Organisation Canadian Institutes of Health Research 
Sector Public
Country Canada
Start 03/2022 
End 03/2027
 
Description Clinical and cellular characterisation of beta cell transcription factor variants in people with young-onset diabetes from different ethnicities
Amount £106,800 (GBP)
Funding ID 18/0005934 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 05/2019 
End 05/2022
 
Description Control of insulin secretion by mitochondrial fusion
Amount $3,699,866 (USD)
Funding ID R01DK135268 
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 08/2023 
End 04/2027
 
Description Defining the molecular and physiological mechanisms of pancreatic islet dysfunction which lead to type 2 diabetes
Amount £482,479 (GBP)
Funding ID MR/L020149/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 08/2013 
End 08/2018
 
Description Diabetes UK
Amount £232,543 (GBP)
Funding ID BDA 12/0004535 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2013 
End 02/2016
 
Description Exploring the mechanisms through which ZnT8 (SLC30A8) deficiency promotes pancreatic beta cell survival and protection against type 2 diabetes
Amount SFr. 113,970 (CHF)
Funding ID P500PM_225305 
Organisation Swiss National Science Foundation 
Sector Public
Country Switzerland
Start 07/2024 
End 07/2026
 
Description GLP-1-regulated beta cell connectivity in human and rodent islets: molecular mechanisms and role in type 2 diabetes
Amount £109,500 (GBP)
Funding ID DUK-12/0004601 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2013 
End 03/2016
 
Description Genetic and nutritional control of pancreatic beta cell identity.
Amount £2,070,354 (GBP)
Funding ID MR/R022259/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 07/2018 
End 07/2024
 
Description How the brain controls food intake: the emerging role of the brain GLP-1 system in energy balance and autonomic control
Amount £419,346 (GBP)
Funding ID MR/J013293/2 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 08/2013 
End 04/2016
 
Description How the brain controls food intake: the emerging role of the brain GLP-1 system in energy balance and autonomic control
Amount £591,743 (GBP)
Funding ID MR/J013293/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 07/2012 
End 09/2013
 
Description ICL ISSF award
Amount £50,000 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 08/2012 
End 09/2014
 
Description La caractérisation transcriptionnelle des cellules bêta "leader" et "follower" dans les îlots pancréatiques humains avec et sans diabète (Giada Ostinelli)
Amount $90,000 (CAD)
Organisation Fonds de recherche du Québec 
Sector Public
Country Canada
Start 09/2023 
End 10/2025
 
Description Loss of ZnT8 impairs response to hypoxia in the pancreatic beta cell
Amount SFr. 9,510 (CHF)
Funding ID 150520 
Organisation Swiss National Science Foundation 
Sector Public
Country Switzerland
Start 06/2013 
End 09/2013
 
Description MRC Experimental Challenge
Amount £3,085,359 (GBP)
Funding ID MR/L020149/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 09/2014 
End 09/2018
 
Description MRC PRogramme
Amount £2,200,000 (GBP)
Funding ID MR/L02036X/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 05/2014 
End 05/2019
 
Description MRC Programme grant renewal
Amount £2,021,555 (GBP)
Funding ID MR/R022259/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 03/2018 
End 03/2023
 
Description Multi-modal Imaging programme for type 2 diabetes prevention and treatment
Amount $16,437,758 (CAD)
Organisation Canada Foundation for Innovation 
Sector Charity/Non Profit
Country Canada
Start 05/2023 
 
Description Optical Fluorescence Micro and Nanoscopy to determine and quantify functional molecular interactions and dynamics across time and length scales
Amount £524,000 (GBP)
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 03/2021 
End 03/2025
 
Description Optogenetic and pharmacological characterization of leader and follower ß-cell coordination and its impact into the islet´s calcium dynamics (Luis Delgadillo)
Amount $90,000 (CAD)
Funding ID 0745000255 
Organisation Canadian Institutes of Health Research 
Sector Public
Country Canada
Start 03/2024 
End 02/2026
 
Description Programme Grant
Amount £1,500,000 (GBP)
Funding ID MR/J0003042/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 09/2012 
End 09/2017
 
Description Role of mitochondrial calcium transport in the regulation of insulin secretion
Amount £467,820 (GBP)
Funding ID BB/J015873/1 
Organisation Biotechnology and Biological Sciences Research Council (BBSRC) 
Sector Public
Country United Kingdom
Start 11/2012 
End 05/2016
 
Description Role of the Type 2 diabetes associated zinc transporter SLC30A8/ZnT8 in the control of glucagon secretion.
Amount £92,196 (GBP)
Funding ID DUK-11/0004409 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2012 
End 09/2015
 
Description Roles of the type 2 diabetes (T2D)-associated gene C2cd4a in regulating glucose homeostasis in the mouse
Amount £23,516 (GBP)
Funding ID MR/R014329/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2018 
End 06/2019
 
Description Spatio-temporal dynamics of immune and non-immune islet injury in Type 1 Diabetes
Amount $1,750,000 (CAD)
Funding ID 0682002550 
Organisation Canadian Institutes of Health Research 
Sector Public
Country Canada
Start 03/2023 
End 03/2027
 
Description Spatio-temporal dynamics of immune and non-immune islet injury in Type 1 Diabetes
Amount $1,750,000 (CAD)
Funding ID 4-SRA-2023-1382-S-N 
Organisation Juvenile Diabetes Research Foundation (JDRF Canada) 
Sector Charity/Non Profit
Country Canada
Start 03/2023 
End 02/2027
 
Description Spatiotemporal Control of Signalling of the GLP-1R Variant Ala316Thr in Pancreatic Beta Cells
Amount £108,414 (GBP)
Funding ID 19/0006094 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2020 
End 09/2023
 
Description Targeting GLP-1 receptor trafficking to improve therapies for type 2 diabetes
Amount £561,774 (GBP)
Funding ID MR/R010676/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 03/2018 
End 03/2021
 
Description Targeting etiological molecular mechanisms to treat human diabetes
Amount £2,200,000 (GBP)
Funding ID MR/L02036X/1 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 11/2014 
End 10/2014
 
Description The London Metallomics Facility
Amount £390,000 (GBP)
Funding ID 202902/Z/16/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 12/2016 
End 12/2021
 
Description The impact of long non-coding RNA at the Pax6 locus on beta cell identity and function
Amount £239,045 (GBP)
Funding ID DUK-15/0005275 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2016 
End 12/2017
 
Description The role of senescence in pancreatic beta cell hierarchy and connecitivty in type 2 diabetes
Amount $120,000 (CAD)
Funding ID 353239 
Organisation Quebec Research Fund - Nature and Technology (FRQNT) 
Sector Public
Country Canada
Start 08/2024 
End 08/2028
 
Description The role of the mitochondrial Fusion Process 1 (Mtfp1) in pancreatic beta cells
Amount £117,517 (GBP)
Funding ID 21/0006358 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2022 
End 08/2025
 
Description Tracking of neuronatin hypervariability and diet-induced deregulation in pancreatic beta cells
Amount £55,862 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 02/2020 
End 09/2020
 
Description Understanding pancreatic beta cell dysfunction in diabetes.
Amount £2,198,961 (GBP)
Funding ID 098424/Z/12/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2012 
End 09/2018
 
Description Understanding putative ß-cell subtypes
Amount $2,432,160 (USD)
Funding ID 101139630011 
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 08/2024 
End 08/2027
 
Description Use of functional genomics to identify the causal genes at two novel type 2 diabetes loci
Amount £102,734 (GBP)
Funding ID DUK-15/0005374 
Organisation Diabetes UK 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2016 
End 10/2019
 
Description Wellcome Trust Senior Investigator Award
Amount £2,200,000 (GBP)
Funding ID WT098424AIA 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2012 
End 09/2018
 
Title Adenoviruses 
Description Adenoviruses encoding active or dominant-negative AMPK 
Type Of Material Technology assay or reagent 
Year Produced 2019 
Provided To Others? No  
Impact Has allowed collaboration and studies of the role of AMPK in other tissues and systems (outside the pancreas). 
 
Title Combination of ACE Engraphtment and single-cell photolabelling. 
Description We have developed in past 2 years an approach combining engraphted islet in the anterior chamber of the eye and photolabeling individual beta cells. This now allow us to follow the activity of the SAME cell prospectively over time (days to weeks) and thus question the stability of sub group of cells and how this is affected in diabetes and by treatments of certain drugs. (Delgadillo, bioRxiv, submitted) 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2024 
Provided To Others? No  
Impact This now allow us to follow the activity of the SAME cell prospectively over time (days to weeks) and thus question the stability of sub group of cells and how this is affected in diabetes and by treatments of certain drugs. 
 
Title Gck.mCardinal mice 
Description Gck.mCardinal mice: a mice model with hypomorphic Gck allele encoding an aberrantly spliced mRNA deleted for exons 2 and 3. Homozygous mice are hyperglycemic. Sex-dependent additive effects of dorzagliatin and incretin on insulin secretion in a novel mouse model of GCK-MODY 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2024 
Provided To Others? Yes  
Impact Unknown yet 
 
Title Generating Functional Pancreatic Insulin-secreting Cells from Human Pluripotent Stem Cells 
Description The optimal culture and passage conditions for hPSCs, prior to their differentiation and subsequent generation of insulin-producing pancreatic cells. This methodology follows the six-stage process for ß-cell directed differentiation, wherein hPSCs differentiate into definitive endoderm (DE), primitive gut tube, posterior foregut fate, pancreatic progenitors, pancreatic endocrine progenitors, and ultimately pancreatic ß-cells. It is noteworthy that this differentiation methodology takes a period of 27 days to generate human pancreatic ß-cells. 
Type Of Material Cell line 
Year Produced 2024 
Provided To Others? Yes  
Impact Investigating the pathogenicity of the recessive HNF1A p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells Ines Cherkaoui, Qian Du, View ORCID ProfileDieter M. Egli, Camille Dion, Harry G. Leitch, Dilshad Sachedina, Shivani Misra, View ORCID ProfileGuy A. Rutter doi: https://doi.org/10.1101/2024.12.10.24318788 
 
Title CCDC 1014606: Experimental Crystal Structure Determination 
Description Related Article: Johannes Broichhagen, Matthias Schönberger, Simon C. Cork, James A. Frank, Piero Marchetti, Marco Bugliani, A. M. James Shapiro, Stefan Trapp, Guy A. Rutter, David J. Hodson, Dirk Trauner|2014|Nat.Commun.|5|5116|doi:10.1038/ncomms6116 
Type Of Material Database/Collection of data 
Year Produced 2014 
Provided To Others? Yes  
Impact Please refer to referred article for all the details. 
URL http://www.ccdc.cam.ac.uk/services/structure_request?id=doi:10.5517/cc131s75&sid=DataCite
 
Title CCDC 1420305: Experimental Crystal Structure Determination 
Description Related Article: Johannes Broichhagen, Natalie R. Johnston, Yorrick von Ohlen, Helena Meyer-Berg, Ben J. Jones, Stephen R. Bloom, Guy A. Rutter, Dirk Trauner, David J. Hodson|2016|Angew.Chem.,Int.Ed.|55|5865|doi:10.1002/anie.201600957 
Type Of Material Database/Collection of data 
Year Produced 2016 
Provided To Others? Yes  
Impact Please refer to referred article for all the details. 
URL http://www.ccdc.cam.ac.uk/services/structure_request?id=doi:10.5517/ccdc.csd.cc1jny9f&sid=DataCite
 
Title CCDC 1420306: Experimental Crystal Structure Determination 
Description Related Article: Johannes Broichhagen, Natalie R. Johnston, Yorrick von Ohlen, Helena Meyer-Berg, Ben J. Jones, Stephen R. Bloom, Guy A. Rutter, Dirk Trauner, David J. Hodson|2016|Angew.Chem.,Int.Ed.|55|5865|doi:10.1002/anie.201600957 
Type Of Material Database/Collection of data 
Year Produced 2016 
Provided To Others? Yes  
Impact Please refer to referred article for all the details. 
URL http://www.ccdc.cam.ac.uk/services/structure_request?id=doi:10.5517/ccdc.csd.cc1jnybg&sid=DataCite
 
Title Connectivity Script 
Description A script that make possible connectivity studies in cell agglomerates such has pancreatic islets. 
Type Of Material Data analysis technique 
Year Produced 2024 
Provided To Others? Yes  
Impact All the connectivity studies in Rutter Lab. 
URL https://zenodo.org/records/14042795
 
Description Alice PS KONG (Hong Kong) 
Organisation Chinese University of Hong Kong
Country Hong Kong 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact The type 2 diabetes gene product STARD10 is a phosphoinositide-binding protein that controls insulin secretory granule biogenesis. - Carrat GR et al - PMID: 32416313 A polysaccharide extract from the medicinal plant Maidong inhibits the IKK-NF-?B pathway and IL-1ß-induced islet inflammation and increases insulin secretion. - Mao D et al - PMID: 32605924 Pancreatic Sirtuin 3 Deficiency Promotes Hepatic Steatosis by Enhancing 5-Hydroxytryptamine Synthesis in Mice With Diet-Induced Obesity. - Ming X et al - PMID: 33087457 Autotaxin signaling facilitates ß cell dedifferentiation and dysfunction induced by Sirtuin 3 deficiency. - Cao H et al - PMID: 35398277
Start Year 2019
 
Description Andrew Pospisilik (Van Andel Institute) 
Organisation Van Andel Institute
Country United States 
Sector Private 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact No paper published yet
Start Year 2023
 
Description Anil Bhushan, UCSF 
Organisation University of California, San Francisco
Country United States 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact mTORC1 to AMPK switching underlies ß-cell metabolic plasticity during maturation and diabetes - Rami Jaafar et al - PMID: 31265435
Start Year 2019
 
Description Brett Morrison (John Hopkins) 
Organisation Johns Hopkins University
Department School of Medicine Johns Hopkins
Country United States 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Macrophage monocarboxylate transporter 1 promotes peripheral nerve regeneration after injury in mice - Mithilesh Kumar Jha et al - PMID: 34491913
Start Year 2019
 
Description Cristina Aguao-Mazzucato (Joslin Center, Boston) 
Organisation Joslin Diabetes Center
Country United States 
Sector Public 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Exercise activates AMPK in mouse and human pancreatic islets to decrease senescence - Priscila Carapeto et al - PMID: 39317751
Start Year 2022
 
Description D Bosco (Université de Genève) 
Organisation University of Geneva
Department Faculty of Diabetes
Country Switzerland 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Targeting GLP-1 receptor trafficking to improve agonist efficacy. - Jones B et al - PMID: 29686402 A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic ß-Cells. - Buenaventura T et al - PMID: 29284659 Beta Cell Hubs Dictate Pancreatic Islet Responses to Glucose. - Johnston NR et al - PMID: 27452146 Sorcin links pancreatic ß cell lipotoxicity to ER Ca2+ stores - Marmugi A et al - PMID: 26822088 Hypoxia lowers SLC30A8/ZnT8 expression and free cytosolic Zn2+ in pancreatic beta cells. Gerber PA et al PMID: 24865615 Incretin-modulated beta cell energetics in intact islets of Langerhans. Hodson DJ et al - PMID: 24766140 ADCY5 couples glucose to insulin secretion in human islets. Hodson DJ et al PMID: 24740569 Lipotoxicity disrupts incretin-regulated human ß cell connectivity. Hodson DJ et al - PMID: 24018562
Start Year 2013
 
Description Dan Luciani (UBC) 
Organisation University of British Columbia
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact no published paper yet
Start Year 2024
 
Description Denton 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact manuscript (in press) Denton RM et al Biochem J 2016
Start Year 2014
 
Description Denton 
Organisation University of Pisa
Country Italy 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Sorcin links pancreatic ß cell lipotoxicity to ER Ca2+ stores - Marmugi A et al - PMID: 26822088 Hypoxia lowers SLC30A8/ZnT8 expression and free cytosolic Zn2+ in pancreatic beta cells. Gerber PA et al PMID: 24865615 Incretin-modulated beta cell energetics in intact islets of Langerhans. Hodson DJ et al - PMID: 24766140 ADCY5 couples glucose to insulin secretion in human islets. Hodson DJ et al PMID: 24740569 Lipotoxicity disrupts incretin-regulated human ß cell connectivity. Hodson DJ et al - PMID: 24018562 Calcium-insensitive splice variants of mammalian E1 subunit of 2-oxoglutarate dehydrogenase complex with tissue-specific patterns of expression. - Denton RM et al - PMID: 26936970 The roles of cytosolic and intramitochondrial Ca2+ and the mitochondrial Ca2+-uniporter (MCU) in the stimulation of mammalian oxidative phosphorylation. - Rutter GA et al - PMID: 32709760
Start Year 2014
 
Description Dieter Egli (Columbia) 
Organisation Columbia University
Country United States 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact ZnT8 Loss of Function Mutation Increases Resistance of Human Embryonic Stem Cell-Derived Beta Cells to Apoptosis in Low Zinc Condition. - Sui L et al - PMID: 36980244 Optimized Protocol for Generating Functional Pancreatic Insulin-secreting Cells from Human Pluripotent Stem Cells. - Cherkaoui I et al - PMID: 38372369 Investigating the pathogenicity of the recessive HNF1A p.A251T variant in monogenic diabetes using iPSC-derived beta-like cells. - Cherkaoui I et al - PMID: 39711726
Start Year 2021
 
Description Dmitry Lim (Piemonte, Italy) 
Organisation University of Eastern Piedmont
Country Italy 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact No published paper yet
Start Year 2023
 
Description Fabrizio Andreelli (Paris) 
Organisation Pitié-Salpêtrière Hospital
Country France 
Sector Hospitals 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact A surrogate of Roux-en-Y gastric bypass (the enterogastro anastomosis surgery) regulates multiple beta-cell pathways during resolution of diabetes in ob/ob mice - Chloé Amouyal et al - PMID: 32739864
Start Year 2019
 
Description Gerald Gradwohl (IGBMC) 
Organisation Institute of Genetics and Molecular and Cellular Biology (IGBMC)
Country France 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Piccand et al - http://www.ncbi.nlm.nih.gov/pubmed/25497096
Start Year 2015
 
Description Helen Roche (Dublin) 
Organisation University College Dublin
Country Ireland 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Dietary substitution of SFA with MUFA within high-fat diets attenuates hyperinsulinaemia and pancreatic islet dysfunction - Jessica C Ralston et al - PMID: 32122411
Start Year 2019
 
Description Herbert Gaisano (UoT) 
Organisation University of Toronto
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Beta cell-specific Znt8 deletion in mice causes marked defects in insulin processing, crystallisation and secretion. - Wijesekara N et al - PMID: 20424817 Islet autoimmunity in human type 1 diabetes: initiation and progression from the perspective of the beta cell. - Thompson PJ et al - PMID: 37488322
Start Year 2022
 
Description James Shapiro (Alberta) 
Organisation University of Alberta
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact ADCY5 couples glucose to insulin secretion in human islets. Hodson DJ et al PMID: 24740569 Sorcin links pancreatic ß cell lipotoxicity to ER Ca2+ stores - Marmugi A et al - PMID: 26822088 MiR-184 expression is regulated by AMPK in pancreatic islets. - Martinez-Sanchez A et al - PMID: 29269398 PMID 39811653 35476777 32694805 29686402 29284659 29269398 26822088 25311795 24740569
Start Year 2014
 
Description Jean DaSilva (UdeM) 
Organisation University of Montreal
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact No published paper yet
Start Year 2023
 
Description Jing Hughes (UWashington) 
Organisation University of Washington
Country United States 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Molecular phenotyping of single pancreatic islet leader beta cells by "Flash-Seq" - Pauline Chabosseau et al - PMID: 36706832
Start Year 2022
 
Description Lorenzo Piemonti (Milan) 
Organisation University of Milan
Country Italy 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact ADCY5 couples glucose to insulin secretion in human islets. Hodson DJ et al - PMID: 24740569 Dual-modal magnetic resonance/fluorescent zinc probes for pancreatic ß-cell mass imaging. - Stasiuk GJ et al - PMID: 25736590 Sorcin links pancreatic ß cell lipotoxicity to ER Ca2+ stores. Marmugi A et al - PMID: 26822088 Beta Cell Hubs Dictate Pancreatic Islet Responses to Glucose. - Johnston NR et al - PMID: 27452146 Glucocorticoids Reprogram ß-Cell Signaling to Preserve Insulin Secretion. - Fine NHF et al - PMID: 29203512 MiR-184 expression is regulated by AMPK in pancreatic islets. - Martinez-Sanchez A et al - PMID: 29269398 A Targeted RNAi Screen Identifies Endocytic Trafficking Factors That Control GLP-1 Receptor Signaling in Pancreatic ß-Cells. - Buenaventura T et al - PMID: 29284659 Targeting GLP-1 receptor trafficking to improve agonist efficacy. - Jones B et al - PMID: 29686402 The effects of kisspeptin on ß-cell function, serum metabolites and appetite in humans. - Izzi-Engbeaya C et al - PMID: 29974637. PDX1-LOW MAFA-LOW ß-cells contribute to islet function and insulin release. - Nasteska D et al - PMID: 33514698 Glucose-Dependent miR-125b Is a Negative Regulator of ß-Cell Function. - Cheung R et al - PMID: 35476777 In vivo and in vitro characterization of GL0034, a novel long-acting glucagon-like peptide-1 receptor agonist. - Jones B et al - PMID: 35676825 Proinflammatory Cytokines Suppress Nonsense-Mediated RNA Decay to Impair Regulated Transcript Isoform Processing in Pancreatic ß-Cells. - Ghiasi SM et al - PMID: 38586449 LDHB contributes to the regulation of lactate levels and basal insulin secretion in human pancreatic ß cells. - Cuozzo F et al - PMID: 38607916 Roles for the long non-coding RNA Pax6os1/PAX6-AS1 in pancreatic beta cell function. - Lopez-Noriega L et al - PMID: 39811653
Start Year 2014
 
Description Malik Chaker-Margot (UdeM) 
Organisation University of Montreal
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact No published paper yet
Start Year 2023
 
Description Marc Donath (Basel) 
Organisation University of Basel
Country Switzerland 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact No published paper yet.
Start Year 2022
 
Description Marie-josé Hébert (UdeM) 
Organisation University of Montreal
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Sex-dependent additive effects of dorzagliatin and incretin on insulin secretion in a novel mouse model of GCK-MODY - Shadai Salazar et al - PMID: 39605321
Start Year 2024
 
Description Matthieu Latreille, (LMS, London) 
Organisation Imperial College London
Department LMS NIHR Flow Cytometry Facility at Imperial
Country United Kingdom 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Dysregulation of the Pdx1/Ovol2/Zeb2 axis in dedifferentiated ß-cells triggers the induction of genes associated with epithelial-mesenchymal transition in diabetes - Daniel S de Jesus et al - PMID: 33989778
Start Year 2019
 
Description Pere Santamaria (Calgary) 
Organisation University of Calgary
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Islet autoimmunity in human type 1 diabetes: initiation and progression from the perspective of the beta cell - Peter J Thompson et al - PMID: 37488322
Start Year 2022
 
Description Peter Thompson (UManitoba) 
Organisation University of Manitoba
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Islet autoimmunity in human type 1 diabetes: initiation and progression from the perspective of the beta cell - Peter J Thompson et al - PMID: 37488322
Start Year 2022
 
Description Phil Blower (KCL) 
Organisation King's College London
Country United Kingdom 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Impact of an SLC30A8 loss-of-function variant on the pancreatic distribution of zinc and manganese: laser ablation-ICP-MS and positron emission tomography studies in mice - George Firth et al - PMID: 37396167
Start Year 2021
 
Description Piero Marchetti (Pisa) 
Organisation University of Pisa
Country Italy 
Sector Academic/University 
PI Contribution experiments for publications
Collaborator Contribution experiments for publications
Impact Sorcin links pancreatic ß cell lipotoxicity to ER Ca2+ stores - Marmugi A et al - PMID: 26822088 Hypoxia lowers SLC30A8/ZnT8 expression and free cytosolic Zn2+ in pancreatic beta cells. Gerber PA et al PMID: 24865615 Incretin-modulated beta cell energetics in intact islets of Langerhans. Hodson DJ et al - PMID: 24766140 ADCY5 couples glucose to insulin secretion in human islets. Hodson DJ et al PMID: 24740569 Lipotoxicity disrupts incretin-regulated human ß cell connectivity. Hodson DJ et al - PMID: 24018562 PMID 39868265 39811653 38586449 38512414 38187722 38076935 36134336 35676825 35476777 33730570 33535042 33264613 32694805 31265435 29974637 29686402 29284659 29269398 29203512 29185012 28132686 27452146 27329800 26822088 25828351 25744824 25311795 25011072 24766140 24740569 24018562 21181396 21127054 18559892
Start Year 2014
 
Description Robert Sladek (McGill) 
Organisation McGill University
Country Canada 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Differential CpG methylation at Nnat in the early establishment of beta cell heterogeneity - Vanessa Yu et al - PMID: 38512414 Molecular phenotyping of single pancreatic islet leader beta cells by "Flash-Seq". - Chabosseau P et al - PMID: 36706832
Start Year 2021
 
Description Scott Soleimanpour (UMichigan) 
Organisation University of Michigan
Country United States 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Mitofusins Mfn1 and Mfn2 Are Required to Preserve Glucose- but Not Incretin-Stimulated ß-Cell Connectivity and Insulin Secretion. - Georgiadou E et al - PMID: 35472764 Mitochondrial metabolism and dynamics in pancreatic beta cell glucose sensing. - Rutter GA et al - PMID: 37284792
Start Year 2020
 
Description Sekler 
Organisation Ben-Gurion University of the Negev
Country Israel 
Sector Academic/University 
PI Contribution Experiments for research paper
Collaborator Contribution Experiments for research paper
Impact Publication Pancreatic beta-cell Na+ channels control global Ca2+ signaling and oxidative metabolism by inducing Na+ and Ca2+ responses that are propagated into mitochondria. DOI - 10.1096/fj.13-248161
Start Year 2013
 
Description Silvia Bonas-Guarch (Barcelona) 
Organisation Barcelona Supercomputing Center
Country Spain 
Sector Public 
PI Contribution https://www.bsc.es/ca/bonas-guarch-silvia/publications
Collaborator Contribution https://www.bsc.es/ca/bonas-guarch-silvia/publications
Impact Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic ß-cell survival and function. - Hu M et al - PMID: 37502937
Start Year 2023
 
Description Tristan Rodriguez (Imperial College London) 
Organisation Imperial College London
Country United Kingdom 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Mitofusins Mfn1 and Mfn2 Are Required to Preserve Glucose- but Not Incretin-Stimulated ß-Cell Connectivity and Insulin Secretion. - Georgiadou E et al - PMID: 35472764 DRP1 levels determine the apoptotic threshold during embryonic differentiation through a mitophagy-dependent mechanism. - Pernaute B et al - PMID: 35597240
Start Year 2020
 
Description Weiping Han (Singapore) 
Organisation Agency for Science, Technology and Research (A*STAR)
Department Institute of Molecular and Cell Biology,
Country Singapore 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Paired box 6 programs essential exocytotic genes in the regulation of glucose-stimulated insulin secretion and glucose homeostasis. - So WY et al - PMID: 34193609
Start Year 2019
 
Description Yasaman Aghazadeh (IRCM) 
Organisation University of Montreal
Department Montreal Clinical Research Institute
Country Canada 
Sector Hospitals 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact No published paper yet
Start Year 2024
 
Description Yusuf Ali (Nanyang, Singapore) 
Organisation Nanyang Technological University
Country Singapore 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact Destabilization of ß Cell FIT2 by saturated fatty acids alter lipid droplet numbers and contribute to ER stress and diabetes. - Zheng X et al - PMID: 35254894 Mitofusins Mfn1 and Mfn2 Are Required to Preserve Glucose- but Not Incretin-Stimulated ß-Cell Connectivity and Insulin Secretion. - Georgiadou E et al - PMID: 35472764 Molecular phenotyping of single pancreatic islet leader beta cells by "Flash-Seq". - Chabosseau P et al - PMID: 36706832 Differential CpG methylation at Nnat in the early establishment of beta cell heterogeneity. - Yu V et al - PMID: 38076935 Differential CpG methylation at Nnat in the early establishment of beta cell heterogeneity. - Yu V et al - PMID: 38512414
Start Year 2020
 
Description Yuval Dor (Israel) 
Organisation Open University of Israel
Country Israel 
Sector Academic/University 
PI Contribution Experiments for publications
Collaborator Contribution Experiments for publications
Impact LKB1 and AMPK differentially regulate pancreatic ß-cell identity - Kone M1 et al - FASEB J. 2014 Nov;28(11):4972-85. doi: 10.1096/fj.14-257667. Epub 2014 Jul 28. Loss of Liver Kinase B1 (LKB1) in Beta Cells Enhances Glucose-stimulated Insulin Secretion Despite Profound Mitochondrial Defects. Swisa A1et al - J Biol Chem. 2015 Aug 21;290(34):20934-46. doi: 10.1074/jbc.M115.639237. Epub 2015 Jul 2. PMID 37646197 31265435 26139601 25070369
Start Year 2014
 
Title GL0034 (Utreglutide) 
Description GL0034 (Utreglutide), a long acting, glucagon-like peptide-1 receptor agonist, improves body weight loss, lipid and liver injury markers in individuals with obesity. My role was to study the impact of the drug in-vitro before the phase 1 clinical trial started. 
Type Therapeutic Intervention - Drug
Current Stage Of Development Refinement. Non-clinical
Year Development Stage Completed 2024
Development Status Under active development/distribution
Impact Clinical Trial referred in Sun Pharma's article: EudraCT No. 2020-003765-20. Phase 1 clinical Trial. 
URL https://www.postersessiononline.eu/173580348_eu/congresos/EASL2024/aula/-SAT_231_EASL2024.pdf
 
Description Podcast 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Podcast for EASD, Feb, 2025. "Islet networks regulating insulin secretion - a debate"
Year(s) Of Engagement Activity 2024
URL https://podcasts.apple.com/ca/podcast/islet-networks-regulating-insulin-secretion-a-debate/id1780534...
 
Description Podcast 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact Debate on the regulation of pancreatic beta cell function with other scientisits: Glucose Regulation of B-Cell KATP Channels: Is a New Model Needed? (youtube.com)
Year(s) Of Engagement Activity 2024
URL https://www.bing.com/videos/riverview/relatedvideo?q=2024+Debate%3a+Glucose+Regulation+of+B-Cell+KAT...
 
Description Podcast 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Debate on the control of pancreatic beta cell function and the control of ATP-sensitive potassium channels
Year(s) Of Engagement Activity 2024
URL https://sites.libsyn.com/499063/site/ralph-a-defronzo-on-a-novel-renal-hepatic-axis-in-endogenous-gl...
 
Description Talk to a patient group 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Patients, carers and/or patient groups
Results and Impact Panel discussion in French in front of patients affected by diabetes and members of the public which appeared live and was broadcast on Facebook: "HumaniSciences, On jase de .. diabete.. (Let's talk about Diabetes)" (https://www.chumontreal.qc.ca/actualites/humanisciences-jase-diabete ). October 2023
Year(s) Of Engagement Activity 2023
URL https://www.chumontreal.qc.ca/actualites/humanisciences-jase-diabete
 
Description Talk to patient group (Brentwood, 2014) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Participants in your research and patient groups
Results and Impact 50 patients attended a research talk, which sparked questions and discussion afterwards

informed research
Year(s) Of Engagement Activity 2014
 
Description Talk to patient group (Twickenham, 2013) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Participants in your research and patient groups
Results and Impact 50 patients attended a research talk, which sparked questions and discussion afterwards

none
Year(s) Of Engagement Activity 2013