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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...
Tallennettuna:
| Julkaisussa: | JCI Insight |
|---|---|
| Päätekijät: | , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
American Society for Clinical Investigation
2019
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| Aiheet: | |
| Linkit: | 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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