Associated Papers
N-linked glycosylation plays an essential role in the stability and function of tissue-nonspecific alkaline phosphatase.
Atanasova D et al.
The Journal of Biological Chemistry, 2025
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
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: A Novel Mutation Associated with an Atypical Newborn Presentation
Esmel-Vilomara R et al.
Journal of Clinical Research in Pediatric Endocrinology, 2020
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Taillandier A et al.
Molecular Genetics and Metabolism, 2015
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