MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
Author:
Funder
King Salman Center for Disability Research
Metakids
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-019-02063-z.pdf
Reference39 articles.
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4. Birktoft JJ, Fu Z, Carnahan GE, Rhodes G, Roderick SL, Banaszak LJ (1989) Comparison of the molecular structures of cytoplasmic and mitochondrial malate dehydrogenase. Biochem Soc Trans 17:301–304
5. Birsoy K, Wang T, Chen WW, Freinkman E, Abu-Remaileh M, Sabatini DM (2015) An essential role of the mitochondrial electron transport chain in cell proliferation is to enable aspartate synthesis. Cell 162:540–551
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