Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency

HIGHLIGHTS

• who: Sotiria Tavoulari from the Mitochondrial Biology Unit, University ofRoad, Cambridge , XY, UK have published the Article: Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency, in the Journal: (JOURNAL)
• what: The authors attempt to rationalize and discuss the metabolic pathways likely to be affected in citrin deficiency, with a focus on their possible impact on related pathological symptoms. The authors attempt later to predict the consequences of different pathogenic mutations in a homozygosity context, focusing on the different functional domains.
• future: To that end cellular models as well as new . . .
  

   

  

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