EPISODE · Dec 4, 2020 · 20 MIN
It takes two to TANGO2
from JIMD Podcasts · host Journal of Inherited Metabolic Disease
The journal recently published two articles on TANGO2 deficiency, describing a case series of 20 patients and exploring the uncertain pathophysiology of this condition. Dr Sebastian Montealgre, Dr Pascale de Lonlay, Dr Felix Distelmaier and Dr Michael Sacher joined our social media editor to explain what they observed and the implications of those findings. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect Claire‐Marine Bérat et al. https://doi.org/10.1002/jimd.12314 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 Miroslav P. Milev et al. https://doi.org/10.1002/jimd.12312
What this episode covers
The journal recently published two articles on TANGO2 deficiency, describing a case series of 20 patients and exploring the uncertain pathophysiology of this condition. Dr Sebastian Montealgre, Dr Pascale de Lonlay, Dr Felix Distelmaier and Dr Michael Sacher joined our social media editor to explain what they observed and the implications of those findings. Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect Claire‐Marine Bérat et al. https://doi.org/10.1002/jimd.12314 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 Miroslav P. Milev et al. https://doi.org/10.1002/jimd.12312
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It takes two to TANGO2
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