Associated Papers
The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα-Fold Arrangement.
Cooper A et al.
Proteins, 2026
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
de Calbiac H et al.
Autophagy Reports, 2024
Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder.
Xu W et al.
Jci Insight, 2024
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Miyake CY et al.
Heart Rhythm, 2022
Mitochondrial dysfunction associated with TANGO2 deficiency.
Heiman P et al.
Scientific Reports, 2022
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J et al.
American Journal of Medical Genetics. Part A, 2022
The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria.
Milev MP et al.
Journal of Inherited Metabolic Disease, 2021
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N et al.
Journal of Inherited Metabolic Disease, 2020
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
Jennions E et al.
Journal of Inherited Metabolic Disease, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery MK et al.
Genome Medicine, 2017
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Lalani SR et al.
American Journal of Human Genetics, 2016