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

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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

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Professor Marc Hellerstein
University of California, Berkeley, USA
Metabolic alterations in primary hepatocytes from mouse CD model and effects of redox manipulations – pilot studies

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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

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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

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Professor Giuseppe Fiermonte
University of Bari, Italy
Elucidating Citrin Deficiency through iPSC-Derived Hepatocyte-like Organoids and AGC2/AGC1 Rescue Strategies

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Assoc. Professor Diana Stojanovski
University of Melbourne, Australia
Molecular mechanisms underscoring Citrin biogenesis and dissecting compensatory pathways in CD using CRISPR screens

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Dr. Araceli del Arco and Dr. Laura Contreras
Universidad Autónoma de Madrid, Spain
Metabolic Changes and Disease Progression in Citrin Deficiency

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Concluded Projects

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Principal Investigator Research Summary
Professor Kimihiko Oishi
Jikei University School of Medicine, Japan
Characterisation of hepatic pathophysiology of citrin deficiency

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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

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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

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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

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Professor Ituro Inoue
National Institute of Genetics, Japan
Deciphering molecular mechanisms of decreased ASS1 protein in CTLN2

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Assoc. Professor Diana Stojanovski
University of Melbourne, Australia
Molecular mechanisms underscoring SLC25A13 biogenesis

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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

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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.