Scientific Committee

English

Scientific Committee

Chairman
Takeyori SAHEKI, MD, PhD

Takeyori SAHEKI, MD, PhD

Dr. 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. Saheki characterized a type of hepatocerebral disease biochemically as adult-onset type II citrullinemia (CTLN2). He discovered the causative gene for CTLN2 and showed that the same gene is the cause of neonatal intrahepatic cholestasis (NICCD). He named the diseases citrin deficiency, and identified the gene encoding mitochondrial aspartate glutamate carrier. Also, Dr Saheki invented a mouse model for citrin deficiency, citrin and mitochondrial glycerol 3-phosphate dehydrogenase double-KO mouse, and by using the model, characterized pathophysiology of citrin deficiency and developed novel therapeutic procedures for the disease. ​

Academic Awards: in 2000, from Japanese Society for Inherited Metabolic Diseases, and in 2003 from the Japan Society of Human Genetics.

Members
Jorgina SATRUSTEGUI, PhD

Jorgina SATRUSTEGUI, PhD

Dr. Jorgina Satrústegui is a Professor of Biochemistry and Molecular Biology at the Centro de Biologia Molecular Severo Ochoa (CBMSO), of the Universidad Autónoma de Madrid, Spain.

Dr. Satrustegui obtained her PhD in Madrid, carried out postdoctoral research in Massachusetts General Hospital (Harvard) and the Johnson Foundation (UPenn), and was appointed as Professor at the Autonomous University of Madrid in 1993. She leads a research laboratory which over the years focused on the study of a new system to transduce calcium signals to mitochondria, which relies on the use of calcium regulated mitochondrial carriers. These are:

  1. the aspartate-glutamate carriers, AGC1/Aralar/Slc25a12 and AGC2/Citrin/Slc25a13, components of the malate aspartate NADH shuttle; and
  2. the ATP-Mg/Pi carriers, SCaMC1/APC1/Slc25a24, SCaMC2/APC3/Slc25a25, and SCaMC3/APC2/Slc25a23 which participate in regulating the total adenine nucleotide content of mitochondria.

She is specifically interested in their role in transducing calcium signals to mitochondria in neurons, as compared to the role of the mitochondrial calcium uniporter, and she has addressed these studies with the help of KO mice. Another main concern of her lab is to understand the role of these carriers in human human disease. Particularly, disease related to mutations in these carriers, such as AGC1 deficiency.

Masahide YAZAKI, MD, PhD

Masahide YAZAKI, MD, PhD

Neurologist and Professor, Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences, Shinshu University, Matsumoto, Japan. ​

Dr. Masahide Yazaki graduated from Shinshu University School of Medicine, Matsumoto, Japan (M.D.) in 1992 and he graduated from the Graduate School of Medicine, Shinshu University in 1998 (Ph.D.). He worked as a neurologist in Shinshu University Hospital. In 1999, he moved to Department of Pathology and Lab Medicine, Indiana University, USA as a postdoctoral fellow to study the pathogenesis of protein-misfolding disease such as amyloidosis. He returned to Shinshu University in 2002, and became Associate Professor, Department of Neurology and Rheumatology, Shinshu University School of Medicine in 2011. In 2014, when the Institute for Biomedical Sciences was established in Shinshu University, he moved to Department of Biological Sciences for Intractable Neurological Diseases, Institute for Biomedical Sciences as an Associate Professor. There, he is continuing basic and clinical research on amyloidosis and citrin deficiency. In 2017, he was promoted to be a Professor at the School of Health Sciences and Institute for Biomedical Sciences, Shinshu University. ​

To date, Dr. Yazaki has performed clinical and pathological studies of CTLN2 patients in Japan to elucidate the clinical pictures of CTLN2 and to establish the therapeutic strategy for CTLN2 patients.

Paul Michael YEN, MD

Paul Michael YEN, MD

Dr. 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 Johns Hopkins, completed his residency in internal medicine at University of Chicago and his endocrinology fellowship at NIH. Prior to Duke-NUS he served on the faculty at Johns Hopkins, Harvard, and as section chief at NIDDK, NIH. He has served on the editorial boards of Endocrinology, Molecular Endocrinology, and Thyroid.

His current research interests are hormonal regulation of hepatic autophagy and lipid metabolism in non-alcoholic fatty liver disease as well as epigenetic regulation of metabolic genes by thyroid hormone.

Citrin Foundation

Citrin Foundation, set up in 2016 to tackle citrin deficiency, aims to provide end-to-end support to all citrin deficiency patients, from funding research that drives effective treatments and eventually cure, and provide support to patients and families. We are a patient-driven, not-for profit organization.

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