A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

Mammalian Alkaline Phosphatases Are Allosteric Enzymes

Marc Hoylaerts, Thomas D. Manes, José Luís Millán · Journal of Biological Chemistry · 1997 · 135 citations · Full text

A molecular approach to dominance in hypophosphatasia

Anne-Sophie Lia-Baldini, Françoise Müller, A. Taillandier et al. · Human Genetics · 2001 · 106 citations

Biology, Parasitic Protozoa, Autophagy +5

Asp³⁶¹Val Mutant of Alkaline Phosphatase Found in Patients with Dominantly Inherited Hypophosphatasia Inhibits the Activity of the Wild-Type Enzyme

Hermann L. Müller, Miwa Yamazaki, Toshimi Michigami et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 54 citations · Full text

Genetics, Pathology, Molecular Genetics +20

Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153→Asp substitution, a cause of perinatal hypophosphatasia

Masahiro Ito, Norio Amizuka, Hidehiro Ozawa et al. · Biochemical Journal · 2002 · 38 citations · Full text

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

Isabelle Brun‐Heath, Anne-Sophie Lia-Baldini, Stéphane Maillard et al. · European Journal of Medical Genetics · 2007 · 35 citations

Biology, Missense Mutations, Biochemistry +6