Here are the Basic Science projects that Citrin Foundation is currently funding and has previously funded. You can click on the Principal Investigator’s name to read their full biography.
Ongoing Projects
| Principal Investigator | Research Summary |
|---|---|
| Professor Edmund R.S. Kunji
University of Cambridge, UK |
Bioenergetics, metabolic, and morphological consequences of citrin pathogenic variants on liver cells and tissue |
| Dr. Araceli del Arco and Dr. Laura Contreras
Universidad Autónoma de Madrid, Spain |
Generation of a new human-like citrin deficiency mouse model to study Citrin deficiency |
| Prof. Marc Hellerstein
University of California, Berkeley, USA |
Metabolic alterations in primary hepatocytes from mouse CD model and effects of redox manipulations – pilot studies |
| Prof. Marc Hellerstein
University of California, Berkeley, USA |
Metabolic alterations in vivo in liver of rodent CD double knock-out model and effects of redox manipulations |
| Prof. Marc Prentki andDr. S.R. Murthy Madiraju
Centre hospitalier de l’Université de Montréal, Canada |
Development of a human cellular model and targeting liver glycerol-3-phosphate phosphatase for citrin deficiency |
Please click on the respective research summaries to learn more
| Principal Investigator | Research Summary |
|---|---|
| Professor Edmund Kunji University of Cambridge, UK | Bioenergetic, metabolic and morphological consequences of citrin pathogenic variants on liver cells and tissue. |
| Dr. Araceli del Arco and Dr. Laura Contreras Universidad Autónoma de Madrid, Spain | Generation of a new human-like citrin deficiency mouse model to study citrin deficiency |
| Prof. Marc Hellerstein University of California, Berkeley, USA | Metabolic alterations in primary hepatocytes from mouse CD model and effects of redox manipulations – pilot studies |
| Prof. Marc Hellerstein University of California, Berkeley, USA | Metabolic alterations in vivo in liver of rodent CD double knock-out model and effects of redox manipulations |
| Prof. Marc Prentki and Dr. S.R. Murthy Madiraju Centre hospitalier de l’Université de Montréal, Canada | Development of a human cellular model and targeting liver glycerol-3-phosphate phosphatase for citrin deficiency |
Concluded Projects
| Principal Investigator | Research Summary |
|---|---|
|
Professor Kimihiko Oishi
Jikei University School of Medicine, Japan |
Characterisation of hepatic pathophysiology of citrin deficiency |
|
Professor Paul M. Yen
Duke-NUS Graduate Medical School, Singapore |
Assessment of amino acid, nutritional, cell signaling, and metabolomic changes in a hepatic model of citrin deficiency |
|
Professor Edmund R.S. Kunji
University of Cambridge, UK |
Characterising the role of the human aspartate/glutamate carrier in citrin deficiency |
|
Professor Takeyori Saheki
Kagoshima University, Japan |
Pathophysiology of citrin deficiency analyzed with a mouse model, Ctrn/mGPD double-KO mice, and development of novel therapeutic treatments |
|
Professor Ituro Inoue
National Institute of Genetics, Japan |
Deciphering molecular mechanisms of decreased ASS1 protein in CTLN2 |
|
Dr. Diana Stojanovski
University of Melbourne, Australia |
Molecular mechanisms underscoring SLC25A13 biogenesis |
Please click on the respective research summaries to learn more
| Principal Investigator | Research Summary |
|---|---|
|
Professor Kimihiko Oishi Jikei University School of Medicine, Japan |
Characterisation of hepatic pathophysiology of citrin deficiency |
|
Professor Paul M. Yen Duke-NUS Graduate Medical School, Singapore |
Assessment of amino acid, nutritional, cell signaling, and metabolomic changes in a hepatic model of citrin deficiency |
|
Professor Edmund Kunji University of Cambridge, UK |
Characterising the role of the human aspartate/glutamate carrier in citrin deficiency |
| Professor Takeyori Saheki Kagoshima University, Japan |
Pathophysiology of citrin deficiency analyzed with a mouse model, Ctrn/mGPD double-KO mice, and development of novel therapeutic treatments |
|
Professor Ituro Inoue National Institute of Genetics, Japan |
Investigation of molecular mechanisms involved in citrullinemia type 2 (CTLN2) |
| Dr. Diana Stojanovski University of Melbourne, Australia |
Molecular mechanisms underscoring SLC25A13 biogenesis |
Dr. Marc Prentki obtained his Ph.D from the University of Geneva. He is now a full professor in the Department of Nutrition at the University of Montreal after working as an assistant professor at the University of Pennsylvania and in Geneva. Dr. Prentki is an established investigator in the University of Montreal Hospital Research Center (CRCHUM) and he is the Founding director of the Montreal Diabetes Research Center (MDRC) that he initiated in 2004 with support from the Canada Foundation for Innovation. He is renowned for his work on metabolic diseases, particularly in the areas of diabetes, obesity and pancreatic beta cell biology, and in cancer cell metabolism. Dr. Prentki published ~190 papers (H index 100) describing different aspects of metabolism and signaling in relation to metabolic diseases and cancer. Dr. Prentki co-directed (Nature 2007) the first GWAS study of any complex disease that resulted in the identification of several type 2 diabetes genes. Recent work from his laboratory, that may be harnessed for citrin deficiency, includes the textbook discovery of glycerol-3-phosphatase (G3PP) in mammalian cells, a central player in the regulation of intermediary and energy metabolism. Using mouse and C. elegans models and in vitro cell models, his laboratory showed that G3PP acts as a glucose excess detoxification machine, and plays an important role in insulin and glucose homeostasis, the regulation of liver glucose and lipid metabolism, cancer cell metabolism and it may promote healthy aging.
Professor Takeyori Saheki graduated from Graduate School of Medicine, Tokushima University in 1970, and he got a PhD degree at Tokushima University. In 1980, he was appointed as Professor of Biochemistry, Faculty of Medicine, Kagoshima University. At present, he is a Guest Researcher at Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences.
Professor Edmund Kunji holds a PhD in Mathematics and Natural Sciences from the University of Groningen, The Netherlands. He carried out his post-doctoral studies in the group of Dr Richard Henderson at the MRC Laboratory of Molecular Biology, Cambridge. Since 2000, he is a programme leader at the MRC Mitochondrial Biology Unit, University of Cambridge, where he works with his team on the role of mitochondrial transport proteins in the translocation of metabolites, cofactors and inorganic ions across the mitochondrial inner membrane. Since 2019, he is Professor of Biophysics in Clinical Neurosciences of the University of Cambridge.
Dr. Kimihiko Oishi is a Professor and the Chair of the Department of Pediatrics at Jikei University School of Medicine. 
Professor Paul Yen is a Professor at Duke-NUS Graduate Medical School in Singapore and Head of the Laboratory of Hormonal Regulation in the Cardiovascular and Metabolic Disorders Program. He obtained his M.D. from The Johns Hopkins University School of Medicine, completed his residency in internal medicine at University of Chicago and his endocrinology fellowship at National Institutes of Health (NIH).
All publications that have been supported by the Foundation can be found on the Publications page.
Calling for Research Proposals
If you are a scientist or medical professional who is interested to study any aspects of citrin deficiency, please do not hesitate to contact us to discuss your idea or submit your proposal to us. We will be willing to fund the research if it meets our criteria after careful evaluation by our scientific committee.
