PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 3350970-4 1988 Our findings help to explain the general absence of symptoms of vitamin B6 excess or deficiency in hypophosphatasia, and provide evidence that TNSALP acts as an ectoenzyme to regulate extracellular rather than intracellular concentrations of PLP (the cofactor form of vitamin B6) and perhaps other phosphate compounds. Vitamin B 6 268-278 alkaline phosphatase, biomineralization associated Homo sapiens 143-149 30576866-1 2019 Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5"-phosphate (PLP), the principal circulating form of vitamin B6, and inorganic pyrophosphate (PPi), a potent inhibitor of mineralization. Vitamin B 6 236-246 alkaline phosphatase, biomineralization associated Homo sapiens 36-75 32912883-6 2020 Subsequent workup revealed a low bone-specific AP and elevated vitamin B6 Subsequently, genetic testing confirmed the diagnosis of adult-onset HPP caused by a heterozygous mutation c.407G>A in the ALPL gene. Vitamin B 6 63-73 alkaline phosphatase, biomineralization associated Homo sapiens 197-201 32158059-2 2020 TNSALP is expressed in the liver, kidney and bone, and its substrates include TNSALP inorganic pyrophosphate, pyridoxal-5"-phosphate (PLP)/vitamin B6 and phosphoethanolamine (PEA). Vitamin B 6 139-149 alkaline phosphatase, biomineralization associated Homo sapiens 0-6 30576866-1 2019 Hypophosphatasia (HPP) features low tissue-nonspecific alkaline phosphatase (TNSALP) isoenzyme activity resulting in extracellular accumulation of its substrates including pyridoxal 5"-phosphate (PLP), the principal circulating form of vitamin B6, and inorganic pyrophosphate (PPi), a potent inhibitor of mineralization. Vitamin B 6 236-246 alkaline phosphatase, biomineralization associated Homo sapiens 77-83 28391250-1 2017 Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in several genes (ALDH7A1, PNPO, ALPL or ALDH4A1). Vitamin B 6 0-10 alkaline phosphatase, biomineralization associated Homo sapiens 130-134 30583557-5 2018 Based on a multivariate joint analysis of all B6 vitamers and their ratios, we identified a genome-wide significant association at a locus on chromosome 1 containing the ALPL (alkaline phosphatase) gene (minimal p = 7.89 x 10-10, rs1106357, minor allele frequency (MAF) = 0.46), previously associated with vitamin B6 levels in blood. Vitamin B 6 306-316 alkaline phosphatase, biomineralization associated Homo sapiens 170-174 29360619-3 2018 Thus, the natural substrates of TNSALP accumulate extracellularly in HPP including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, and pyridoxal 5"-phosphate (PLP), the principal circulating form of vitamin B6. Vitamin B 6 220-230 alkaline phosphatase, biomineralization associated Homo sapiens 32-38 25147783-8 2014 For baseline measures of Vitamin B6, we identified genome-wide significant associations for SNPs at the ALPL locus (rs1697421; P = 7.06 x 10(-10) and rs1780316; P = 2.25 x 10(-08)). Vitamin B 6 25-35 alkaline phosphatase, biomineralization associated Homo sapiens 104-108 25972531-13 2015 CONCLUSIONS: In healthy adults, common variants in ALPL influence plasma PLP concentration, the most frequently used biomarker for vitamin B-6 status. Vitamin B 6 131-142 alkaline phosphatase, biomineralization associated Homo sapiens 51-55 19303062-5 2009 Polymorphisms in the ALPL gene (rs4654748, p = 8.30 x 10(-18)) were associated with vitamin B6 and FUT2 (rs602662, [corrected] p = 2.83 x 10(-20)) with vitamin B12 serum levels. Vitamin B 6 84-94 alkaline phosphatase, biomineralization associated Homo sapiens 21-25 23479201-3 2013 TNSALP is also necessary for proper vitamin B6 metabolism and its participation as a cofactor for neurotransmitters in the central nervous system. Vitamin B 6 36-46 alkaline phosphatase, biomineralization associated Homo sapiens 0-6 19303062-7 2009 The ALPL gene likely influences the catabolism of vitamin B6 while FUT2 interferes with absorption of vitamin B12. Vitamin B 6 50-60 alkaline phosphatase, biomineralization associated Homo sapiens 4-8 34547524-3 2022 In HPP, diminished TNSALP activity leads to extracellular accumulation of its natural substrates including inorganic pyrophosphate (PPi), an inhibitor of mineralization, and pyridoxal 5"-phosphate (PLP), the principal circulating form of vitamin B6 (B6). Vitamin B 6 238-248 alkaline phosphatase, biomineralization associated Homo sapiens 19-25 34515659-4 2021 A low serum alkaline phosphatase (ALP) and increased serum vitamin B6 level signalled the diagnosis, which was later confirmed by identification of two recessive mutations of the ALPL gene. Vitamin B 6 59-69 alkaline phosphatase, biomineralization associated Homo sapiens 179-183