Associated Papers
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR et al.
Jbmr Plus, 2025
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
35320273 (PubMed )
Supplement: pcbi.1010009.s009.xlsx › Sheet1
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Sultana S et al.
Molecular Genetics and Metabolism, 2013
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.
Makita S et al.
The Febs Journal, 2012
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D et al.
Bmc Medical Genetics, 2009
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
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