Associated Papers
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
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
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
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.
Brun-Heath I et al.
European Journal of Medical Genetics, 0
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