Physiological role of alkaline phosphatase explored in hypophosphatasia

Hypophosphatasia (HPP) is the instructive rickets or osteomalacia caused by loss‐of‐function mutation(s) within TNSALP, the gene that encodes the “tissue nonspecific” isoenzyme of alkaline phosphatase (TNSALP). HPP reveals a critical role for this enzyme in skeletal mineralization. Increased extrace...

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Veröffentlicht in:	Annals of the New York Academy of Sciences 2010-04, Vol.1192 (1), p.190-200
1. Verfasser:	Whyte, Michael P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alkaline Phosphatase - genetics Alkaline Phosphatase - metabolism Alkaline Phosphatase - physiology Animals Diphosphates - metabolism ectoenzyme Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - metabolism Humans Hypophosphatasia - diagnosis Hypophosphatasia - genetics Hypophosphatasia - metabolism inorganic pyrophosphate Isoenzymes - genetics Mice Mice, Knockout osteomalacia Phosphatase Phosphates - metabolism Pyridoxal Phosphate - metabolism rickets vitamin B6
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