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Article

Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.

PLoS computational biology - 1 Mar 2022

Xiao Fei, Zhou Ziyun, Song Xingyu, Gan Mi, Long Jie, Verkhivker Gennady, Hu Guang

Abstract excerpt

Hypophosphatasia (HPP) is a rare inherited disorder characterized by defective bone mineralization and 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 is proposed for the large-scale analysis of ALPL mutations-from...

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Identifiers

PMID: 35320273
DOI: 10.1371/journal.pcbi.1010009
PMCID: PMC8979438

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Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.PMID 35320273Read ↗

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