Article
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia.
The FEBS journal - 1 Dec 2006
Nasu Makiko, Ito Masahiro, Ishida Yoko, Numa Natsuko, Komaru Keiichi, Nomura Shuichi, Oda Kimimitsu
Abstract excerpt
Various mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene are responsible for hypophosphatasia characterized by defective bone and tooth mineralization; however, the underlying molecular mechanisms remain largely to be elucidated. Substitution of an arginine at position 433 with a histidine [TNSALP(R433H)] or a cysteine [TNSALP(R433C)] was reported in patients diagnosed with the mild or...
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