Associated Papers
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Calmarza P et al.
Journal of Bone and Mineral Metabolism, 2023
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
37422472 (PubMed )
Supplement: 41467_2023_39833_MOESM4_ESM.xlsx › Sheet1_
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
Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.
Nielson CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
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