AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report
AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report
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Publisher
Boston: Massachusetts Medical Society
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Language
English
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Boston: Massachusetts Medical Society
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Contents
The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1), specific to neurons and muscle, supplies aspartate to the cytosol and, as a component of the malate-aspartate shuttle, enables mitochondrial oxidation of cytosolic NADH, thought to be important in providing energy for neurons in the central nervous system. We describe AGC1 deficiency,...
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Full title
AGC1 Deficiency Associated with Global Cerebral HypomyelinationBrief Report
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TN_cdi_proquest_journals_223908167
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_223908167
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ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa0900591
