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Structural and mechanistic insights into ALS patient derived mutations in D-amino acid oxidase.

International journal of biological macromolecules - 1 Jan 2024

Khan Shumayila, Upadhyay Saurabh, Dave Upma, Kumar Ashwani, Gomes James

Abstract excerpt

The D-amino acid oxidase protein modulates neurotransmission by controlling the levels of D-serine, a co-agonist of N-methyl-D-aspartate receptors. Mutations in the DAO gene have been associated with ALS, with some studies reporting pathogenic mechanisms of the R199W mutation. We have characterized two novel mutations R38H and Q201R found in ALS patients and report certain novel findings related to the R199W...

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PMID: 38035964
DOI: 10.1016/j.ijbiomac.2023.128403

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