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• W1444943575 endingPage "43" @default.
• W1444943575 startingPage "25" @default.
• W1444943575 abstract "Hypophosphatasia (HPP) is due to deficient activity of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNAP). This enzyme cleaves extracellular substrates inorganic pyrophosphates (PPi)Pyrophosphate (PPi) , pyridoxal-5′-phosphate (PLP), phosphoethanolamine (PEA) and nucleotidesNucleotide , and probably other substrates not yet identified. During the last 15 years the role of TNAP in mineralization, and to a less degree in brain, has been investigated, providing hypotheses and explanations for both bone and Neuronal activity neuronal HPPPhenotype phenotypes. ALPL, the gene encoding TNAP, is subject to many mutations, mostly missense mutationsMutation missense mutation . A few number of mutations are recurrently found and may be quite frequent in particular populations. This reflects founder effects. The great variety of mutations results in a great number of compound heterozygous genotypesGenotype and in highly variable clinical expressivity. A good correlation was observed between the severity of the disease and in vitro enzymatic activity of the mutant protein measured after site-directed mutagenesis. Many missense mutations found in severe hypophosphatasia produced a mutant protein that failed to reach the cell membraneMembrane , was accumulated in the cis-GolgiGolgi cis and was subsequently degraded in the proteasome. Missense mutations located in the catalytic site or in the homodimerProtein homodimer interface were often shown by site-directed mutagenesis to have a dominant negative effect. Currently molecular diagnosis of HPP is based on the sequencing of the coding sequence of ALPL that allows detection of approximately 95 % of mutations in severe cases. In addition, other genes, especially genes encoding proteins involved in the regulation of extracellular PPi concentration, could modify the phenotype (modifier genes)." @default.
• W1444943575 created "2016-06-24" @default.
• W1444943575 creator A5044818431 @default.
• W1444943575 date "2015-01-01" @default.
• W1444943575 modified "2023-09-25" @default.
• W1444943575 title "Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations" @default.
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