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Two human patient mitochondrial pyruvate carrier mutations reveal distinct molecular mechanisms of dysfunction

The mitochondrial pyruvate carrier (MPC) occupies a central metabolic node by transporting cytosolic pyruvate into the mitochondrial matrix and linking glycolysis with mitochondrial metabolism. Two reported human MPC1 mutations cause developmental abnormalities, neurological problems, metabolic defi...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:JCI Insight
मुख्य लेखकों: Oonthonpan, Lalita, Rauckhorst, Adam J., Gray, Lawrence R., Boutron, Audrey C., Taylor, Eric B.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: American Society for Clinical Investigation 2019
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC6629238/
https://ncbi.nlm.nih.gov/pubmed/31145700
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/jci.insight.126132
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