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CITRIN DEFICIENCY
What is Citrin Deficiency?
Clinical Presentation
Prevalence
Diagnosis
Monitoring & Treatment
Prevention & Precaution
FAQ
RESEARCH
Funding Opportunities
Funded Research
Research – Basic Science
Ongoing
Consequences of citrin mutations II
Generation of Aralar-KO mouse model
Citrin biogenesis & trafficking
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
Development of a human cellular model and targeting liver glycerol-3-phosphate phosphatase for citrin deficiency
Concluded
Study of fatty liver in CD mouse model
Characterizing a CD cellular model
Consequences of citrin mutations I
Study of CD using double-KO mouse model
ASS1 post-translational regulation
Research – Therapies
Ongoing
Improved amino acid delivery
Gene editing for CD
Modulating NAD+ in CD
The development of mRNA therapy for CD with Moderna
Concluded
Substituting citrin with aralar
Clinical Study of LOLA
Research – Clinical
Ongoing
Citrin Foundation Global Omics Study
Citrin Deficiency Center of Excellence
Natural history of CD
Detailed genetic testing for CD
Concluded
CTLN2 prevention
Publications
Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
Food Preferences of Patients with Citrin Deficiency
Analysis of dietary intake in citrin-deficient patients: Towards the prevention of CTLN2
Summary of analysis
Recognition of and construction of therapeutic procedures for citrin deficiency
Current treatment of Citrin Deficiency
Publication of Scientific Discovery
PROFESSIONAL NETWORK
Physicians and clinicians
Funding opportunities
Resources
Patient Flyer
English
German
Korean
Societies and Foundations
Citrin deficiency book
PATIENT
Resources
Patient Flyer
English
German
Korean
Useful articles
Patient website
NEWS/EVENTS
News
Events
Citrin Foundation 2nd In-Person Global Symposium 2023
2023 Global Symposium
64th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
6th Asian Congress on Inherited Metabolic Diseases
44th Society for Inherited Metabolic Disorders (SIMD) Annual Meeting
63rd Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
Ureagenesis Conference 2022
Citrin Foundation Global Research Symposium 2019
Inaugural Event Seminar on Citrin Deficiency
Newsletters
2024
June 2024
February 2024
2023
October 2023
July 2023
April 2023
Expert Talk Series
Patient Website
MENU
Home
ABOUT US
Mission & Vision
Research Strategy
Our Team
Scientific Supervisory Board
Advisors
CITRIN DEFICIENCY
What is Citrin Deficiency?
Clinical Presentation
Prevalence
Diagnosis
Monitoring & Treatment
Prevention & Precaution
FAQ
RESEARCH
Funding Opportunities
Funded Research
Research – Basic Science
Ongoing
Consequences of citrin mutations II
Generation of Aralar-KO mouse model
Citrin biogenesis & trafficking
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
Development of a human cellular model and targeting liver glycerol-3-phosphate phosphatase for citrin deficiency
Concluded
Study of fatty liver in CD mouse model
Characterizing a CD cellular model
Consequences of citrin mutations I
Study of CD using double-KO mouse model
ASS1 post-translational regulation
Research – Therapies
Ongoing
Improved amino acid delivery
Gene editing for CD
Modulating NAD+ in CD
The development of mRNA therapy for CD with Moderna
Concluded
Substituting citrin with aralar
Clinical Study of LOLA
Research – Clinical
Ongoing
Citrin Foundation Global Omics Study
Citrin Deficiency Center of Excellence
Natural history of CD
Detailed genetic testing for CD
Concluded
CTLN2 prevention
Publications
Clinical Landscape of Citrin Deficiency: A Global Perspective on a Multifaceted Condition
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver
Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency
Food Preferences of Patients with Citrin Deficiency
Analysis of dietary intake in citrin-deficient patients: Towards the prevention of CTLN2
Summary of analysis
Recognition of and construction of therapeutic procedures for citrin deficiency
Current treatment of Citrin Deficiency
Publication of Scientific Discovery
PROFESSIONAL NETWORK
Physicians and Clinicians
Funding opportunities
Resources
Patient Flyer
English
German
Korean
Societies and Foundations
Citrin deficiency book
PATIENT
Resources
Patient Flyer
English
German
Korean
Useful articles
Patient website
NEWS/EVENTS
News
Events
Citrin Foundation 2nd In-Person Global Symposium 2023
2023 Global Symposium
64th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
6th Asian Congress on Inherited Metabolic Diseases
44th Society for Inherited Metabolic Disorders (SIMD) Annual Meeting
63rd Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
Ureagenesis Conference 2022
Citrin Foundation Global Research Symposium 2019
Inaugural Event Seminar on Citrin Deficiency
Newsletters
2024
June 2024
February 2024
2023
October 2023
July 2023
April 2023
Expert Talk Series
Patient Website
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