Article

TANGO2 deficient iPSC-differentiated cardiomyocyte and dermal fibroblasts have normal mitochondrial OXPHOS function

2022-06-28

Abstract excerpt

<h4>ABSTRACT</h4> Bi-allelic loss-of-function mutations in TANGO2 (Transport and Golgi Organization protein 2) cause a rare multiorgan genetic disorder. Despite normal cardiac function at baseline, patients may experience lethal cardiac arrhythmias during “crises” often associated with metabolic stresses such as fasting, viral illness and fever. The molecular function of TANGO2 remains largely unknown. Previous...

Topics

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

Identifiers and source

Literature Corpus work: 293adc7c-1087-5a82-8827-2e1abb462501
DOI: 10.1101/2022.06.27.497853

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

TANGO2 deficient iPSC-differentiated cardiomyocyte and dermal fibroblasts have normal mitochondrial OXPHOS functionDOI 10.1101/2022.06.27.497853Read

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

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

Clinical phenotype associated with variants in TANGO2: A case study.Semantic 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

Folate ameliorates arrhythmia in patient-derived TANGO2-deficient iPSC-cardiomyocytesSemantic proximity Read

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.Semantic proximity Read

Clinical phenotype associated with TANGO2 gene mutation.Semantic proximity Read

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.Semantic proximity Read

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

Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.Semantic proximity Read

TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioningSemantic proximity Read