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Characterization of E121K mutation of D-amino acid oxidase - Insights into mechanisms leading to amyotrophic lateral sclerosis.

Biochimica et biophysica acta. Proteins and proteomics - 1 Nov 2023

Dave Upma, Khan Shumayila, Gomes James

Abstract excerpt

D-amino acid oxidase (DAO) maintains the intracellular d-serine level which modulates the activity of the N-methyl-d-aspartate receptor and its dysfunction has been linked to several neurodegenerative disorders. In targeted next-generation sequencing study by our group, E121K mutation in DAO was associated with amyotrophic lateral sclerosis (ALS) in patients from India. However, variations in molecular mechanisms...

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PMID: 37558109
DOI: 10.1016/j.bbapap.2023.140947

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