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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...
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| Опубликовано в: : | JCI Insight |
|---|---|
| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
American Society for Clinical Investigation
2019
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| Предметы: | |
| Online-ссылка: | 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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