[HTML][HTML] Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation …
Y Murakami, N Kanzawa, K Saito, PM Krawitz… - Journal of Biological …, 2012 - ASBMB
Hyperphosphatasia mental retardation syndrome (HPMR), an autosomal recessive disease
characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels,
is caused by mutations in the coding region of the phosphatidylinositol glycan anchor
biosynthesis, class V (PIGV) gene, the product of which is a mannosyltransferase essential
for glycosylphosphatidylinositol (GPI) biosynthesis. Mutations found in four families caused
amino acid substitutions A341E, A341V, Q256K, and H385P, which drastically decreased …
characterized by mental retardation and elevated serum alkaline phosphatase (ALP) levels,
is caused by mutations in the coding region of the phosphatidylinositol glycan anchor
biosynthesis, class V (PIGV) gene, the product of which is a mannosyltransferase essential
for glycosylphosphatidylinositol (GPI) biosynthesis. Mutations found in four families caused
amino acid substitutions A341E, A341V, Q256K, and H385P, which drastically decreased …