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Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal disease

28 Mar 2023

Abstract excerpt

OBJECTIVES: The non-essential amino acids serine, glycine, and alanine, as well as diverse sphingolipid species, are implicated in inherited neuro-retinal disorders and are metabolically linked by serine palmitoyltransferase (SPT), a key enzyme in membrane lipid biogenesis. To gain insight into the pathophysiological mechanisms linking these pathways to neuro-retinal diseases we compared patients diagnosed with...

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PMID: 36997154
DOI: 10.1016/j.molmet.2023.101716

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