Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

Michael P. Whyte, Cheryl R. Greenberg, Nada Salman et al. · New England Journal of Medicine · 2012 · 566 citations · Full text

Medicine, Pediatrics, Pharmacotherapy +17

Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization

Étienne Mornet, E.A. Stura, Anne-Sophie Lia-Baldini et al. · Journal of Biological Chemistry · 2001 · 220 citations · Full text

Medicine, Biochemistry, Molecular Biology +17

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert, Isabelle Brun‐Heath, Anne-Sophie Lia-Baldini et al. · BMC Medical Genetics · 2009 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A General Method for Rapid Purification of Soluble Versions of Glycosyhosphatidylinositol-Anchored Proteins Expressed in Insect Cells: An Application for Human Tissue-Nonspecific Alkaline Phosphatase

Kazutaka Oda, Yoshihiro Amaya, Mariko Fukushi-Irie et al. · The Journal of Biochemistry · 1999 · 115 citations

Life Sciences, Biochemistry, Molecular Biology +16

Defective Intracellular Transport of Tissue-Nonspecific Alkaline Phosphatase with an Ala162->Thr Mutation Associated with Lethal Hypophosphatasia

Hisanobu Shibata, Masaru Fukushi, Ayuko Igarashi et al. · The Journal of Biochemistry · 1998 · 51 citations

Life Sciences, Biochemistry, Molecular Biology +12