Associated Papers
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.
Tang H et al.
Frontiers in Genetics, 2021
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-s001.xlsx › Supplemental_table_1
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B et al.
Bone, 2017
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
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
Satou Y et al.
Biochimica Et Biophysica Acta, 2012
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
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