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Article

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

The Biochemical journal - 1 Feb 2002

Ito Masahiro, Amizuka Norio, Ozawa Hidehiro, Oda Kimimitsu

Abstract excerpt

Tissue-non-specific alkaline phosphatase (TNSALP) is an ectoenzyme anchored to the plasma membrane via glycosylphosphatidylinositol (GPI). A TNSALP mutant with an Asn(153)-->Asp (N153D) substitution was reported in a foetus diagnosed with perinatal hypophosphatasia (Mornet, Taillandier, Peyramaure, Kaper, Muller, Brenner, Bussiere, Freisinger, Godard, Merrer et al. (1998) Eur. J. Hum. Genet. 6, 308-314). When...

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Identifiers

PMID: 11802776
DOI: 10.1042/0264-6021:3610473
PMCID: PMC1222329

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GPI

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Source receipt: pubmed, retrieved 7 Sept 2026.

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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.PMID 11802776Read ↗

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