We are pleased to announce a publication titled “Current Understanding of Pathogenic Mechanisms and Disease Models of Citrin Deficiency”. This paper was first-authored by Denis Lacabanne and Alice Sowton, with Edmund Kunji and Sotiria Tavoulari (University of Cambridge) serving as senior authors. The paper was published in the Journal of Inherited Metabolic Disease and is available for viewing here: https://doi.org/10.1002/jimd.70021
This comprehensive review offers updated insights into the molecular function of the citrin transporter, exploring how distinct pathogenic variants in SLC25A13 may contribute to specific dysfunctions. It also discusses cellular and animal research models of citrin deficiency and their vital role in therapeutic development and biomarker discovery.
The review further provides an in-depth discussion of the structure and transport mechanisms of citrin, and the likely absence of regulation by calcium. Notably, it presents an extensive overview of the reported pathogenic variants of SLC25A13, mapping them to potential functional consequences.
This work represents a substantial contribution to the growing body of knowledge on citrin deficiency and reflects the considerable efforts of the team.
We warmly congratulate all authors on this excellent achievement.
The Foundation continues to fund research projects to better understand citrin deficiency and ultimately find a cure for this condition. We have thus far earmarked US$30 million for research on citrin deficiency and are offering generous research grants to study the condition. You may find out more about our Funding Opportunities here: https://citrinfoundation.org/research/funding-opportunities/.
We value any feedback or ideas you might have, so please do not hesitate to contact us at info@citrinfoundation.org
