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
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
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
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Martins L et al.
Bone, 2013
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 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
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
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
Ishida Y et al.
Biochimica Et Biophysica Acta, 2011
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000
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