We are pleased to announce another publication by Professor Takeyori Saheki that was sponsored by the Citrin Foundation. The paper, titled “AGC2 (Citrin) Deficiency – From Recognition of the Disease till Construction of Therapeutic Procedures” has been recently published on MDPI Biomolecules’ Journal, and is available for viewing here: Biomolecules | AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures
This paper reviews the history of identification of citrin deficiency including NICCD and CTLN2 and discusses the symptoms and characteristics observed in patients with citrin deficiency. It also discloses the role of citrin and introduces the mouse models that Prof. Saheki developed. Finally it talks about possible treatment agents, including LOLA. We believe that these are important documentations that will further our understanding in citrin deficiency and help us in coming up with a potential treatment for the condition.
The Foundation continues to fund research to better understand citrin deficiency and ultimately find a cure for it. For more details about the research projects that we are supporting please visit: Research – Citrin Foundation
Since Citrin Foundation’s establishment, we have made much progress in understanding citrin deficiency, developing a global patient and physician database, and coming up with potential treatment methods for this condition. It is because of the continued support of researchers, physicians, patients, friends, and partners, like yourself that we have been able to continue making such great leaps with our research and we are grateful for this unwavering support. While there is still much work that needs to be done before we can fully understand citrin deficiency, we will persist in our research to find a cure for this disease.
Should you have any feedback or idea, please do not hesitate to contact us at info@citrinfoundation.org.
