Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease‐associated defects in Drosophila and human cells
Author:
Affiliation:
1. Department of Biology Concordia University Montreal Quebec Canada
2. Department of Biology Coastal Carolina University Conway South Carolina USA
3. Department of Anatomyand Cell Biology McGill University Montreal Quebec Canada
Funder
Canadian Institutes of Health Research
Natural Sciences and Engineering Research Council of Canada
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12579
Reference31 articles.
1. Functional genomics reveals genes involved in protein secretion and Golgi organization
2. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
3. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
4. Variable clinical severity in TANGO2 deficiency: Case series and literature review
5. Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises
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2. Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease;Biochemical and Biophysical Research Communications;2024-07
3. Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder;JCI Insight;2024-06-10
4. Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome;American Journal of Medical Genetics Part A;2024-06-03
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