Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency
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DOI: 10.1093/hmg/ddac246
Abstract: Abstract Maintaining protein lipoylation is vital for cell metabolism. The H-protein encoded by GCSH has a dual role in protein lipoylation required for bioenergetic enzymes including pyruvate dehydrogenase and 2-ketoglutarate dehydrogenase, and in the one-carbon… read more here.
Keywords: pathogenic variants; gcsh encoding; protein lipoylation; protein ... See more keywords