Research Activity

Citrin Foundation funds research all over the world. Here is a simplified summary of the research projects that Citrin Foundation is currently funding and has previously funded.

(as of December 2024)

Active Research Projects

Please click on the project title for more information on the project

Prof. Edmund Kunji

Bioenergetic, metabolic and morphological consequences of citrin pathogenic variants on liver cells and tissue

Prof. Yukio Nagasaki

Development of NanoAA for Citrin Deficiency

Dr. Araceli del Arco and Dr. Laura Contreras

Dr. Araceli del Arco and
Dr. Laura Contreras

Generation of a new human-like citrin-deficiency mouse model to study Citrin deficiency

Prof. Kimitoshi Nakamura

Establishment of Citrin Foundation Citrin Deficiency Center of Excellence at the Kumamoto University

Professor Gerald Schwank and Professor Johannes Häberle

Professor Gerald Schwank and Professor Johannes Häberle

Gene editing of SLC25A13 to treat citrin deficiency

Professor Joseph Baur

Modulating NAD+ availability in a rodent model of citrin deficiency

Professor Marc Hellerstein

Metabolic alterations in primary hepatocytes from mouse CD model and effects of redox manipulations – pilot studies

Metabolic alterations in vivo in liver of rodent CD double knock-out model and effects of redox manipulations

Professor Marc Prentki and Dr. S.R. Murthy Madiraju

Professor Marc Prentki and Dr. S.R. Murthy Madiraju

Development of a human cellular model and targeting liver glycerol-3-phosphate phosphatase for citrin deficiency

Dr. Julien Baruteau

mRNA therapy for Citrin deficiency

Past Research Projects

Please click on the project title for more information on the project

Professor Takeyori Saheki

Pathophysiology of citrin deficiency analyzed with a mouse model, Ctrn/mGPD double-KO mice, and development of novel therapeutic treatments

late Dr. Yoshiyuki Okano

Preparation of guideline for treatment in NICCD period, diet therapy in compensation period, elucidation of onset factors and risk factors for CTLN2

Prof. Kimihiko Oishi

Characterisation of hepatic pathophysiology of citrin deficiency

Prof. Paul M. Yen

Assessment of amino acid, nutritional, cell signaling, and metabolomic changes in a hepatic model of citrin deficiency

Prof Jorgina Satrustegúi

Citrin replacement with Aralar: dissecting the Citrin-Aralar interactions

Dr. Ayano Inui

Natural History of Citrin Deficiency Patients

Prof. Ituro Inoue

Deciphering molecular mechanism of decreased ASS1 protein in Citrullinemia type II (CTLN2), aiming for clinical therapeutic strategy

Prof. Masahide Yazaki

LOLA Extended Study: Evaluation of therapeutic efficacy and safety of oral intake of LOLA (L-ornithine, L-aspartate) for CTLN2 patients: A non-double blind pilot study

Dr. Diana Stojanovski