(Q44176340)

English

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia

scientific article published on 30 April 2013

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scholarly article

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Europe PubMed Central

30 November 2017

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia (English)

1 reference

Europe PubMed Central

30 November 2017

hypophosphatasia

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author name string

Sara Sultana

1

1 reference

Europe PubMed Central

30 November 2017

Hiba A Al-Shawafi

2

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Europe PubMed Central

30 November 2017

Saori Makita

3

1 reference

Europe PubMed Central

30 November 2017

Miwa Sohda

4

1 reference

Europe PubMed Central

30 November 2017

Norio Amizuka

5

1 reference

Europe PubMed Central

30 November 2017

Ritsuo Takagi

6

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Europe PubMed Central

30 November 2017

Kimimitsu Oda

7

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Europe PubMed Central

30 November 2017

language of work or name

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publication date

30 April 2013

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Europe PubMed Central

30 November 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

30 November 2017

109

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30 November 2017

3

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Europe PubMed Central

30 November 2017

282-288

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Europe PubMed Central

30 November 2017

Hypophosphatasia

1 reference

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Physiological role of alkaline phosphatase explored in hypophosphatasia

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Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

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Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia.

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Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

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Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone

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Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia

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7 January 2021

Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain

1 reference

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Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia.

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Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia

1 reference

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Tissue-nonspecific alkaline phosphatase with an Asp(289)-->Val mutation fails to reach the cell surface and undergoes proteasome-mediated degradation

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Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia

1 reference

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Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

1 reference

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Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation

1 reference

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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

1 reference

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7 January 2021

Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene

1 reference

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A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia.

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

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A general method for rapid purification of soluble versions of glycosylphosphatidylinositol-anchored proteins expressed in insect cells: an application for human tissue-nonspecific alkaline phosphatase

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Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

1 reference

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Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity

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Structural evidence of functional divergence in human alkaline phosphatases

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Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

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7 January 2021

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein.

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Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.

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Marrow cell transplantation for infantile hypophosphatasia

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Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

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Adult hypophosphatasia treated with teriparatide

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Enzyme replacement therapy for murine hypophosphatasia

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Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia

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Dose response of bone-targeted enzyme replacement for murine hypophosphatasia

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Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient

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Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy

1 reference

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Enzyme-replacement therapy in life-threatening hypophosphatasia.

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Identifiers

10.1016/J.YMGME.2013.04.016

1 reference

Europe PubMed Central

30 November 2017

1 reference

Europe PubMed Central

30 November 2017

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