Article

Protein structural features predict responsiveness to pharmacological chaperone treatment for three lysosomal storage disorders

2021-07-09

Abstract excerpt

Three-dimensional structures of proteins can provide important clues into the efficacy of personalized treatment. We perform a structural analysis of variants within three inherited lysosomal storage disorders, comparing variants responsive to pharmacological chaperone treatment to those unresponsive to such treatment. We find that predicted ΔΔG of mutation is higher on average for variants unresponsive to treatme...

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Literature Corpus work: 4c91f236-1f0b-5d59-8b4e-5347f1170059
DOI: 10.1101/2021.07.08.451652

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