Article
Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase.
Human gene therapy - 1 Nov 2011
Matsumoto Tae, Miyake Koichi, Yamamoto Seiko, Orimo Hideo, Miyake Noriko, Odagaki Yuko, Adachi Kumi, Iijima Osamu, Narisawa Sonoko, Millán José Luis, Fukunaga Yoshitaka, Shimada Takashi
Abstract excerpt
Hypophosphatasia (HPP) is an inherited disease caused by a deficiency of tissue-nonspecific alkaline phosphatase (TNALP). The major symptom of human HPP is hypomineralization, rickets, or osteomalacia, although the clinical severity is highly variable. The phenotypes of TNALP knockout (Akp2(-/-)) mice mimic those of the severe infantile form of HPP. Akp2(-/-) mice appear normal at birth, but they develop growth...
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