Article

Dissecting Mutational Allosteric Effects in Alkaline Phosphatases Associated with Different Hypophosphatasia Phenotypes: An Integrative Computational Investigation

2022-01-25

Abstract excerpt

Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone mineralization, is highly variable in its clinical phenotype. The disease occurs due to various loss-of-function mutations in ALPL , the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). In this work, a data-driven and biophysics-based approach for large-scale analysis of ALPL mutations – from nonpathogenic to sever...

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Literature Corpus work: 2e35c076-0d22-5732-8657-18f03b5dbba9
DOI: 10.1101/2022.01.24.477621

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