2017
DOI: 10.1111/jnc.13950
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Abstract: Tissue Nonspecific 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 and teeth. Moreover, TNAP is also expressed by brain cells and the severe forms of HPP are associated with neurological disorders, including epilepsy and brain morphological anomalies. However TNAP’s role in the nervous system remains poorly understood. In order to investigate its … Show more

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Cited by 34 publications
(35 citation statements)
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References 188 publications
(203 reference statements)
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“…Recent metabolomic profiling of the brains of mice with hypophosphatasia showed a complex range of abnormalities including low levels of GABA and another important neurotransmitter, adenosine, as well as abnormalities of metabolites involved in myelin synthesis (N‐acetylaspartate [NAA], N‐acetylglutamate [NAG]), and in the methionine cycle and transsulfuration pathway (cystathionine and methionine) …”
Section: Causes and Consequences Of Plp Deficiencymentioning
confidence: 99%
See 1 more Smart Citation
“…Recent metabolomic profiling of the brains of mice with hypophosphatasia showed a complex range of abnormalities including low levels of GABA and another important neurotransmitter, adenosine, as well as abnormalities of metabolites involved in myelin synthesis (N‐acetylaspartate [NAA], N‐acetylglutamate [NAG]), and in the methionine cycle and transsulfuration pathway (cystathionine and methionine) …”
Section: Causes and Consequences Of Plp Deficiencymentioning
confidence: 99%
“…47,48 Recent metabolomic profiling of the brains of mice with hypophosphatasia showed a complex range of abnormalities including low levels of GABA and another important neurotransmitter, adenosine, as well as abnormalities of metabolites involved in myelin synthesis (N-acetylaspartate [NAA], N-acetylglutamate [NAG]), and in the methionine cycle and transsulfuration pathway (cystathionine and methionine). 49 Studies on vitamin B 6 -deprived Neuro-2a cells showed reduced synthesis of glycine, serine, and 5-methyl-tetrahydrofolate. The authors suggested that the low intracellular 5-methyl-THF concentrations observed in vitro may explain the favorable but so far unexplained response of some patients with ALDH7A1 deficiency epilepsy to folinic acid supplementation.…”
Section: Epilepsymentioning
confidence: 99%
“…Having analysed a broad range of metabolites, we came to the conclusion that increased level of РР i in blood plasma is evidently caused by a decreased level and/or activity of tissue-nonspecific alkaline phosphatase (TNAP), which is a marker of the BBB endothelial cells [7]. This indicates a risk of hypophosphatasia and neurological disorders, including epilepsy and disruption of myelin synthesis [235]. It can also be coupled with an increase of phosphorylated tau protein [236] and upregulation of FAT/CD36, a phosphorylated fatty acid translocase [237].…”
Section: Oxidative Medicine and Cellular Longevitymentioning
confidence: 99%
“…Everything does not always work as expected however. In another study neurodevelopmental abnormalities caused by hypophosphatasia were studied (Cruz et al, 2017). Again, from the expected function of the causative protein, phosphate metabolism alterations were expected and 31P-NMR was carried out in addition to the more common 1H-NMR.…”
Section: Figmentioning
confidence: 99%
“…Changes in whole pancreas lysate may mean significant changes in beta cells, which form only a minority of the lysate, or minor changes in the rest of pancreas (Porosk et al, 2017b). Neurologic symptoms and whole brain metabolomics is another example, which always leaves space for speculations (Cruz et al, 2017).…”
Section: Kilk Translation and Contextualization From Animal Models Tomentioning
confidence: 99%