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
LEARN MORE |
|
Professor Marc Hellerstein University of California, Berkeley, USA |
Metabolic alterations in primary hepatocytes from mouse CD model and effects of redox manipulations – pilot studies LEARN MORE |
|
Professor 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 LEARN MORE |
|
Professor 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 LEARN MORE |
|
Professor Giuseppe Fiermonte University of Bari, Italy |
Elucidating Citrin Deficiency through iPSC-Derived Hepatocyte-like Organoids and AGC2/AGC1 Rescue Strategies LEARN MORE |
|
Assoc. Professor Diana Stojanovski University of Melbourne, Australia |
Molecular mechanisms underscoring Citrin biogenesis and dissecting compensatory pathways in CD using CRISPR screens LEARN MORE |
|
Dr. Araceli del Arco and Dr. Laura Contreras Universidad Autónoma de Madrid, Spain |
Metabolic Changes and Disease Progression in Citrin Deficiency
LEARN MORE |
Concluded Projects
| Principal Investigator | Research Summary |
|---|---|
|
Professor Kimihiko Oishi Jikei University School of Medicine, Japan |
Characterisation of hepatic pathophysiology of citrin deficiency LEARN MORE |
|
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 LEARN MORE |
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Professor Edmund R.S. Kunji UUniversity of Cambridge, UK |
Characterising the role of the human aspartate/glutamate carrier in citrin deficiency LEARN MORE |
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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 LEARN MORE |
|
Professor Ituro Inoue National Institute of Genetics, Japan |
Deciphering molecular mechanisms of decreased ASS1 protein in CTLN2 LEARN MORE |
|
Assoc. Professor Diana Stojanovski University of Melbourne, Australia |
Molecular mechanisms underscoring SLC25A13 biogenesis LEARN MORE |
|
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 LEARN MORE |
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.

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.
A/Prof. Diana Stojanovski
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.

Full Professor of Biochemistry, Department of Biosciences, Biotechnologies, and Biopharmaceutics, University of Bari, Italy
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.
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).

