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

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, Peyramaur...

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Main Authors: Ito, Masahiro, Amizuka, Norio, Ozawa, Hidehiro, Oda, Kimimitsu
Format: Artigo
Jezik:Inglês
Izdano: 2002
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1222329/
https://ncbi.nlm.nih.gov/pubmed/11802776
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