ArticleScientific reports2022
Mitochondrial dysfunction associated with TANGO2 deficiency.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05374616 (Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder), which is not on this map. Cited by 28 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Natural History Study and Establishment of a Biorepository-TANGO2-related Disorder
Who cites it
28 citing papers in PubMed, 45 citations in OpenAlex.
- Oligodendroglial TANGO2 Regulates Lipid Metabolism to Control Motor Coordination.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- A founder variant in TANGO2 p.(Leu148Trp) in ten Palestinian families: clinical characterization and haplotype analysis of TANGO2 deficiency disorder.BMC medical genomics · 2026Article
- Long-Read HiFi Genome Sequencing Resolves Retrotransposon-Mediated Deletions in TANGO2 Deficiency Disorder.Neurology. Genetics · 2026Article
- The crystal structure of human transport and Golgi organization 2 homolog (TANGO2) suggests a cysteine N-terminal nucleophile (Ntn) hydrolase.Acta crystallographica. Section D, Structural biology · 2026Article
- The Crystal Structure of Human Transport and Golgi Organization 2 Homolog (TANGO2) Protein Reveals an αββα-Fold Arrangement.Proteins · 2026Article
- Article
- A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs.JIMD reports · 2026Article
- Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.Biomolecules · 2025Article
- TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant.Molecular genetics and metabolism reports · 2025Article
- TANGO2 binds crystallin alpha B and its loss causes desminopathy.Nature communications · 2025Article
- CD4+ T-Cell Lymphoma Harboring a Chimeric Antigen Receptor Integration inThe New England journal of medicine · 2025Article
- TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.Autophagy reports · 2024Article
- Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2024Article
- Clinical case report of intractable paroxysmal sympathetic hyperactivity in TANGO2 deficiency disorder.American journal of medical genetics. Part A · 2024Article
- Cardiomyocyte PANX1 Controls Glycolysis and Neutrophil Recruitment in Hypertrophy.Circulation research · 2024Article
- Cellular and Molecular Responses to Mitochondrial DNA Deletions in Kearns-Sayre Syndrome: Some Underlying Mechanisms.Molecular neurobiology · 2024Review
- Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder.JCI insight · 2024Article
- TANGO2 deficiency disease is predominantly caused by a lipid imbalance.Disease models & mechanisms · 2024Review
- Article
- Review: Genes Involved in Mitochondrial Physiology Within 22q11.2 Deleted Region and Their Relevance to Schizophrenia.Schizophrenia bulletin · 2023Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Transport and Golgi Organization protein 2 Homolog (TANGO2)-related disease is an autosomal recessive disorder caused by mutations in the TANGO2 gene. Symptoms typically manifest in early childhood and include developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias, along with severe metabolic crises including hypoglycemia, lactic acidosis, and hyperammonemia. Severity varies among and within families. Previous studies have reported contradictory evidence of mitochondrial dysfunction. Since the clinical symptoms and metabolic abnormalities are suggestive of a broad dysfunction of mitochondrial energy metabolism, we undertook a broad examination of mitochondrial bioenergetics in TANGO2 deficient patients utilizing skin fibroblasts derived from three patients exhibiting TANGO2-related disease. Functional studies revealed that TANGO2 protein was present in mitochondrial extracts of control cells but not patient cells. Superoxide production was increased in patient cells, while oxygen consumption rate, particularly under stress, along with relative ATP levels and β-oxidation of oleate were reduced. Our findings suggest that mitochondrial function should be assessed and monitored in all patients with TANGO2 mutation as targeted treatment of the energy dysfunction could improve outcome in this condition.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.