Article

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

2022-11-04

Abstract excerpt

<h4>ABSTRACT</h4> Mutations in the T ransport an d G olgi O rganization 2 ( TANGO2 ) gene are associated with intellectual deficit, neurodevelopmental delay and regression. Individuals can also present with an acute metabolic crisis that includes rhabdomyolysis, cardiomyopathy and cardiac arrhythmias, the latter of which are potentially lethal. While preventing metabolic crises has the potential to reduce mo...

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Literature Corpus work: ebb4b817-6931-5505-b6fa-90ffe629e131
DOI: 10.1101/2022.11.04.514597

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