Étienne Mornet
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Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia Open
Hypophosphatasia (HPP) is a rare metabolic disorder characterized by low tissue-nonspecific alkaline phosphatase (TNSALP) typically caused by ALPL gene mutations. HPP is heterogeneous, with clinical presentation correlating with residual T…
Identification of altered brain metabolites associated with<span>TNAP</span>activity in a mouse model of hypophosphatasia using untargeted<span>NMR</span>‐based metabolomics analysis Open
Tissue non‐specific alkaline phosphatase ( TNAP ) is a key player of bone mineralization and TNAP gene ( ALPL ) mutations in human are responsible for hypophosphatasia ( HPP ), a rare heritable disease affecting the mineralization of bones…