Article

Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease

2024-02-29

Abstract excerpt

<h4>ABSTRACT</h4> TANGO2 deficiency disease (TDD) is a multisystem disease caused by variants in the TANGO2 gene. Symptoms include neurodevelopmental delays, seizures and potentially lethal metabolic crises and cardiac arrhythmias. While the function of TANGO2 remains elusive, vitamin B5/pantothenic acid supplementation has been shown to alleviate symptoms in a fruit fly model and has also been used to treat ind...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9bcbc1b6-66e6-525f-858a-ba726aa84994
DOI: 10.1101/2024.02.29.581305

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency diseaseDOI 10.1101/2024.02.29.581305Read

Vitamin B5, a Coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in <i>Drosophila</i> and human cellsSemantic proximity Read

Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cells.Semantic proximity Read

Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2.Semantic proximity Read

Glycerolipid defects in skeletal muscle contribute to rhabdomyolysis in Tango2 deficiencySemantic proximity Read

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.Semantic proximity Read

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.Semantic proximity Read

TANGO2 is an acyl-CoA binding protein.Semantic proximity Read

Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis DisordersSemantic proximity Read

Variable clinical severity in TANGO2 deficiency: Case series and literature review.Semantic proximity Read

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.Semantic proximity Read

The crystal structure of human transport and Golgi organization 2 homolog (TANGO2) suggests a cysteine N-terminal nucleophile (Ntn) hydrolase.Semantic proximity Read

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.Semantic proximity Read