ALPL

Summary

Gene Symbol: ALPL
Description: alkaline phosphatase, liver/bone/kidney
Alias: AP-TNAP, APTNAP, HOPS, TNALP, TNAP, TNSALP, alkaline phosphatase, tissue-nonspecific isozyme, alkaline phosphatase liver/bone/kidney isozyme, liver/bone/kidney-type alkaline phosphatase, tissue non-specific alkaline phosphatase, tissue-nonspecific ALP
Species: human
Products:     ALPL

Top Publications

  1. Orimo H, Girschick H, Goseki Sone M, Ito M, Oda K, Shimada T. Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. J Bone Miner Res. 2001;16:2313-9 pubmed
    The tissue-nonspecific alkaline phosphatase (TNSALP) gene from five German family members with childhood-type hypophosphatasia (HOPS) was analyzed using the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP)-..
  2. Kozlenkov A, Le Du M, Cuniasse P, Ny T, Hoylaerts M, Millan J. Residues determining the binding specificity of uncompetitive inhibitors to tissue-nonspecific alkaline phosphatase. J Bone Miner Res. 2004;19:1862-72 pubmed
    Recent data have pointed to TNALP as a therapeutic target for soft-tissue ossification abnormalities...
  3. Mornet E. Hypophosphatasia. Best Pract Res Clin Rheumatol. 2008;22:113-27 pubmed publisher
    ..on serum alkaline phosphatase assay and molecular analysis of the liver/bone/kidney alkaline phosphatase gene (ALPL). Currently, there is no treatment for the disease...
  4. Cheung B, Ong K, Cheung R, Wong L, Wat N, Tam S, et al. Association between plasma alkaline phosphatase and C-reactive protein in Hong Kong Chinese. Clin Chem Lab Med. 2008;46:523-7 pubmed publisher
    ..28, p=0.019), but in men, ALP was not an independent determinant of CRP levels. ALP may be another marker of systemic inflammation, especially in women. Whether it provides clinical information additional to CRP requires further study. ..
  5. Millan J. The role of phosphatases in the initiation of skeletal mineralization. Calcif Tissue Int. 2013;93:299-306 pubmed publisher
    ..However, TNAP knockout (Alpl(-/-)) mice are born with a mineralized skeleton and have HA crystals in their chondrocyte- and osteoblast-derived ..
  6. Henthorn P, Raducha M, Fedde K, Lafferty M, Whyte M. Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. Proc Natl Acad Sci U S A. 1992;89:9924-8 pubmed
    ..hallmark of hypophosphatasia is deficient activity of the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP)...
  7. Mornet E, Taillandier A, Peyramaure S, Kaper F, Muller F, Brenner R, et al. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur J Hum Genet. 1998;6:308-14 pubmed
    ..We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia...
  8. Herasse M, Spentchian M, Taillandier A, Mornet E. Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. Eur J Hum Genet. 2002;10:666-8 pubmed
    ..liver-, bone- or kidney-type alkaline phosphatase due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene...
  9. Le Du M, Millan J. Structural evidence of functional divergence in human alkaline phosphatases. J Biol Chem. 2002;277:49808-14 pubmed
    ..of the alkaline phosphatase (AP) gene family has lead to the existence in humans of one tissue-nonspecific (TNAP) and three tissue-specific isozymes, i.e. intestinal (IAP), germ cell (GCAP), and placental AP (PLAP)...

More Information

Publications119 found, 100 shown here

  1. Watanabe H, Goseki Sone M, Orimo H, Hamatani R, Takinami H, Ishikawa I. Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. J Bone Miner Res. 2002;17:1945-8 pubmed
    ..characterized by defective skeletal mineralization, deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, and premature loss of deciduous teeth. The gene for TNSALP is located on chromosome 1p34-36...
  2. Ciancaglini P, Yadav M, Simão A, Narisawa S, Pizauro J, Farquharson C, et al. Kinetic analysis of substrate utilization by native and TNAP-, NPP1-, or PHOSPHO1-deficient matrix vesicles. J Bone Miner Res. 2010;25:716-23 pubmed publisher
    ..MVs at physiologic pH, analyzing the hydrolysis of ATP, ADP, and PP(i) by isolated wild-type (WT) as well as TNAP-, NPP1- and PHOSPHO1-deficient MVs...
  3. Zurutuza L, Muller F, Gibrat J, Taillandier A, Simon Bouy B, Serre J, et al. Correlations of genotype and phenotype in hypophosphatasia. Hum Mol Genet. 1999;8:1039-46 pubmed
    ..The disease is due to various mutations in the tissue-non-specific alkaline phosphatase ( TNSALP ) gene...
  4. Muller H, Yamazaki M, Michigami T, Kageyama T, Schönau E, Schneider P, et al. Asp361Val Mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. J Clin Endocrinol Metab. 2000;85:743-7 pubmed
    ..by the hypomineralization of bone associated with the mutation of the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Although the disease is usually autosomal recessive, an autosomal dominant form is also recognized...
  5. Lia Baldini A, Muller F, Taillandier A, Gibrat J, Mouchard M, Robin B, et al. A molecular approach to dominance in hypophosphatasia. Hum Genet. 2001;109:99-108 pubmed
    ..characterized by defective bone mineralization and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity...
  6. Watanabe H, Takinami H, Goseki Sone M, Orimo H, Hamatani R, Ishikawa I. Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia. Biochem Biophys Res Commun. 2005;327:124-9 pubmed
    ..characterized by defective skeletal mineralization, deficiency of tissue-nonspecific alkaline phosphatase (TNSALP) activity, and premature loss of deciduous teeth...
  7. Goseki Sone M, Sogabe N, Fukushi Irie M, Mizoi L, Orimo H, Suzuki T, et al. Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD. J Bone Miner Res. 2005;20:773-82 pubmed
    Polymorphisms of the TNSALP gene have not previously been studied as a possible determinant for variations in BMD or as a predisposing genetic factor for osteoporosis...
  8. Hoylaerts M, Ding L, Narisawa S, Van Kerckhoven S, Millan J. Mammalian alkaline phosphatase catalysis requires active site structure stabilization via the N-terminal amino acid microenvironment. Biochemistry. 2006;45:9756-66 pubmed
    ..in determining the enzyme stability and catalysis using human placental (PLAP) and tissue-nonspecific AP (TNAP) as paradigms...
  9. Cheung B, Ong K, Wong L. Elevated serum alkaline phosphatase and peripheral arterial disease in the United States National Health and Nutrition Examination Survey 1999-2004. Int J Cardiol. 2009;135:156-61 pubmed publisher
    ..73 m(2)), the odds ratio increased to 4.22 (95% CI 1.45-12.35) (p=0.010). Elevated serum ALP is correlated with PAD, independent of other traditional cardiovascular risk factors. ..
  10. Sogabe N, Oda K, Nakamura H, Orimo H, Watanabe H, Hosoi T, et al. Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density. Biomed Res. 2008;29:213-9 pubmed
    ..of hypophosphatasia, which is a systemic skeletal disorder resulting from tissuenonspecific alkaline phosphatase (TNSALP) deficiency, TNSALP was suggested to be indispensable for bone mineralization...
  11. Yuan X, Waterworth D, Perry J, Lim N, Song K, Chambers J, et al. Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet. 2008;83:520-8 pubmed publisher
    ..transferase (GGT) levels (HNF1A on chromosome 12), and three loci for alkaline phosphatase (ALP) levels (ALPL on chromosome 1, GPLD1 on chromosome 6, and JMJD1C-REEP3 on chromosome 10)...
  12. Diez Zaera M, Diaz Hernandez J, Hernández Álvarez E, Zimmermann H, Diaz Hernandez M, Miras Portugal M. Tissue-nonspecific alkaline phosphatase promotes axonal growth of hippocampal neurons. Mol Biol Cell. 2011;22:1014-24 pubmed publisher
    ..Here we report that a reduction in extracellular ATP levels by tissue-nonspecific alkaline phosphatase (TNAP) is essential for the development of neuritic processes by cultured hippocampal neurons...
  13. Lans C. Do recent research studies validate the medicinal plants used in British Columbia, Canada for pet diseases and wild animals taken into temporary care?. J Ethnopharmacol. 2019;236:366-392 pubmed publisher
  14. Salles J. Clinical Forms and Animal Models of Hypophosphatasia. Subcell Biochem. 2015;76:3-24 pubmed publisher
    Hypophosphatasia (HPP) is due to mutations of the tissue non-specific alkaline phosphatase (TNAP) gene expressed in the liver, kidney, and bone...
  15. Colazo J, Hu J, Dahir K, Simmons J. Neurological symptoms in Hypophosphatasia. Osteoporos Int. 2019;30:469-480 pubmed publisher
    ..HPP) is an inborn error of metabolism due to deficiency of tissue non-specific alkaline phosphatase (TNSALP)...
  16. Iijima O, Miyake K, Watanabe A, Miyake N, Igarashi T, Kanokoda C, et al. Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells. Hum Gene Ther. 2015;26:801-12 pubmed publisher
    ..disease caused by loss-of-function mutations in the gene that encodes tissue-nonspecific alkaline phosphatase (TNALP)...
  17. Maman E, Briot K, Roux C. Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia. Joint Bone Spine. 2016;83:346-8 pubmed publisher
    ..HPP) was diagnosed from low serum alkaline phosphatase (ALP), and tissue nonspecific isoenzyme of ALP (TNSALP) mutation analysis revealing 2 heterozygous mutations: c.299C>T (p. T100M) and c.571G>A (p. E191K)...
  18. Ikenoue S, Miyakoshi K, Ishii T, Sato Y, Otani T, Akiba Y, et al. Discordant fetal phenotype of hypophosphatasia in two siblings. Am J Med Genet A. 2017;: pubmed publisher
    ..HPP) is an autosomal recessive metabolic disorder with impaired bone mineralization due to mutations in the ALPL gene. The genotype-phenotype correlation of this disorder has been widely described...
  19. Cormier C. Genetic Hypercalcemia. Joint Bone Spine. 2018;: pubmed publisher
    ..Other very rare causes include hypophosphatasia due to ALPL mutations, which is characterized by a low alkaline phosphatase level; and renal phosphate wasting due to an NPT2 ..
  20. Lefever E, Witters P, Gielen E, Vanclooster A, Meersseman W, Morava E, et al. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates. J Clin Densitom. 2018;: pubmed publisher
    Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by mutations in the alkaline phosphatase (ALPL) gene, and characterized by low circulating alkaline phosphatase (ALP) levels and bone, muscle, dental and systemic ..
  21. Park E, Cho S, Lee J, Kim J, Cho H, Kim J, et al. First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. Ann Clin Lab Sci. 2016;46:302-7 pubmed
    ..By Sanger sequencing of the ALPL gene, we identified two heterozygous variants, including a missense (c.334G>A; p.Gly112Ser) and a nonsense (c...
  22. Khan A, Josse R, Kannu P, Villeneuve J, Paul T, Uum S, et al. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019;: pubmed publisher
    ..ALPL) gene causing reductions in the activity of the tissue non-specific isoenzyme of alkaline phosphatase (TNSALP)...
  23. Taketani T. Neurological Symptoms of Hypophosphatasia. Subcell Biochem. 2015;76:309-22 pubmed publisher
    ..HPP) is a bone metabolic disorder caused by mutations in the liver/bone/kidney alkaline phosphatase gene (ALPL), which encodes tissue-nonspecific alkaline phosphatase (TNAP)...
  24. Williams D, Pinzón C, Huggins S, Pryor J, Falck A, Herman F, et al. Genetic engineering a large animal model of human hypophosphatasia in sheep. Sci Rep. 2018;8:16945 pubmed publisher
    ..HPP) using CRISPR/Cas9 to introduce a single point mutation in the tissue nonspecific alkaline phosphatase (TNSALP) gene (ALPL) (1077 C > G) in sheep...
  25. Okazaki Y, Kitajima H, Mochizuki N, Kitaoka T, Michigami T, Ozono K. Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. Eur J Pediatr. 2016;175:433-7 pubmed publisher
    ..caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase (TNSALP)...
  26. Fukazawa M, Tezuka J, Sasazuki M, Masumoto N, Baba H, Doi T, et al. Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. Brain Dev. 2018;40:140-144 pubmed publisher
    ..It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP...
  27. Fonta C, Salles J. Neuromuscular features of hypophosphatasia. Arch Pediatr. 2017;24:5S85-5S88 pubmed publisher
    ..Tissue-non-specific alkaline phosphatase (Alkaline Phosphatase-Liver/Bone/Kidney [ALPL]) is expressed in brain neuronal cell and in muscle cells during development and adulthood...
  28. Coburn S. Vitamin B-6 Metabolism and Interactions with TNAP. Subcell Biochem. 2015;76:207-38 pubmed publisher
    ..The increase in plasma pyridoxal phosphate indicates the importance of tissue non-specific alkaline phosphatase (TNAP) in transferring vitamin B-6 into the tissues...
  29. Güzel Nur B, Celmeli G, Manguoglu E, Soyucen E, Bircan I, Mihci E. Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene. J Clin Res Pediatr Endocrinol. 2016;8:360-4 pubmed publisher
    ..is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene...
  30. Kishnani P, Rush E, Arundel P, Bishop N, Dahir K, Fraser W, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017;122:4-17 pubmed publisher
    ..mutations or a single dominant-negative mutation in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP)...
  31. Nowak L, Rosay B, Czégé D, Fonta C. Tetramisole and Levamisole Suppress Neuronal Activity Independently from Their Inhibitory Action on Tissue Non-specific Alkaline Phosphatase in Mouse Cortex. Subcell Biochem. 2015;76:239-81 pubmed publisher
    Tissue non-specific alkaline phosphatase (TNAP) may be involved in the synthesis of GABA and adenosine, which are the main inhibitory neurotransmitters in cortex...
  32. Chang C, Yeh S, Lee B, Chen C, Su C, Lin Y, et al. Osteogenic Surface Modification Based on Functionalized Poly-P-Xylylene Coating. PLoS ONE. 2015;10:e0137017 pubmed publisher
    ..phosphatase (ALP) activity assay, Alizarin Red S (ARS) staining and the expression of osteogenic gene markers, Alpl and Bglap3...
  33. Hussein M, Yun I, Kim B, Kim Y. Craniofacial Fibrous Dysplasia: Retrospective Study on the Relationship Between the Tumor Volume Changes and the Circulating Serum Calcitonin and Serum Alkaline Phosphatase. Ann Plast Surg. 2017;78:289-293 pubmed publisher
    ..Investigation of the serum calcitonin in the preoperative period is also recommended on a large scale because it was related to the presence of the tumor. ..
  34. Mornet E. Genetics of hypophosphatasia. Arch Pediatr. 2017;24:5S51-5S56 pubmed publisher
    ..mutations in the Alkaline Phosphatase-Liver (ALPL) gene encoding the tissue nonspecific alkaline phosphatase (TNSALP)...
  35. Orimo H, Goseki Sone M, Sato S, Shimada T. Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. Genomics. 1997;42:364-6 pubmed
  36. Hossain A, Jung L. Expression of bone specific alkaline phosphatase on human B cells. Cell Immunol. 2008;253:66-70 pubmed publisher
    ..The role of BAP in B cell biology is uncertain. However, these data suggest that BAP may play an important role in differentiation and maturation of human B cells. ..
  37. Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet. 2014;22:1160-4 pubmed publisher
    ..heterogeneous rare, inherited disorder of bone and mineral metabolism with extensive allelic heterogeneity in the ALPL gene. In this report, we present a family with heterozygous parents (maternal p.(Glu191Lys), paternal p...
  38. Young B, Hart R, Buchacz K, Scott M, Palella F, Brooks J. HIV Viral Load Monitoring Frequency and Risk of Treatment Failure among Immunologically Stable HIV-Infected Patients Prescribed Combination Antiretroviral Therapy. J Int Assoc Provid AIDS Care. 2015;14:536-43 pubmed publisher
    ..monitoring frequency was associated with differential rates of virologic failure (VF) among HIV Outpatient Study (HOPS) participants seen during 1999 to 2013, who had maintained VL <50 copies/mL, CD4 counts ≥300 cells/mm(3), ..
  39. Forino M, Pace S, Chianese G, Santagostini L, Werner M, Weinigel C, et al. Humudifucol and Bioactive Prenylated Polyphenols from Hops (Humulus lupulus cv. "Cascade"). J Nat Prod. 2016;79:590-7 pubmed publisher
    ..The prenylated chalcone xanthohumol inhibited both enzymes at low μM concentrations. ..
  40. Cui L, Rashdan N, Zhu D, Milne E, Ajuh P, Milne G, et al. End stage renal disease-induced hypercalcemia may promote aortic valve calcification via Annexin VI enrichment of valve interstitial cell derived-matrix vesicles. J Cell Physiol. 2017;232:2985-2995 pubmed publisher
    ..001) in VICs. Ca treatment increased the mRNA of the osteogenic markers Msx2, Runx2, and Alpl (p < 0.01)...
  41. Ishida Y, Komaru K, Oda K. Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. Biochim Biophys Acta. 2011;1812:326-32 pubmed publisher
    Mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene are responsible for hypophosphatasia, an inborn error of bone and teeth metabolism associated with reduced levels of serum alkaline phosphatase activity...
  42. Fukunaka A, Kurokawa Y, Teranishi F, Sekler I, Oda K, Ackland M, et al. Tissue nonspecific alkaline phosphatase is activated via a two-step mechanism by zinc transport complexes in the early secretory pathway. J Biol Chem. 2011;286:16363-73 pubmed publisher
    ..expressed in chicken DT40 cells did not contribute to the activation of tissue nonspecific alkaline phosphatase (TNAP)...
  43. Whyte M. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12:233-46 pubmed publisher
    ..loss-of-function mutations within the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP)...
  44. Favarin B, Andrade M, Bolean M, Simão A, Ramos A, Hoylaerts M, et al. Effect of the presence of cholesterol in the interfacial microenvironment on the modulation of the alkaline phosphatase activity during in vitro mineralization. Colloids Surf B Biointerfaces. 2017;155:466-476 pubmed publisher
    ..Tissue-nonspecific alkaline phosphatase (TNAP) degrades inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, and contributes Pi
  45. Machado J, Faria M, Ferreira I, Páscoa R, Lopes J. Varietal discrimination of hop pellets by near and mid infrared spectroscopy. Talanta. 2018;180:69-75 pubmed publisher
    ..Compared with the reference procedures normally used for hops variety discrimination these techniques are quicker, cost-effective, non-destructive and eco-friendly.
  46. Kobayashi I, Shidara K, Okuno S, Yamada S, Imanishi Y, Mori K, et al. Higher serum bone alkaline phosphatase as a predictor of mortality in male hemodialysis patients. Life Sci. 2012;90:212-8 pubmed publisher
    ..84(95%CI:0.44-1.60)], it may be due to the narrower day-to-day variation and the absence of diurnal variation in serum BAP compared to other markers. Higher serum BAP may be a predictor of ACM in male hemodialysis patients. ..
  47. Amaya C, Militello R, Calligaris S, Colombo M. Rab24 interacts with the Rab7/Rab interacting lysosomal protein complex to regulate endosomal degradation. Traffic. 2016;17:1181-1196 pubmed publisher
    ..Interestingly, overexpression of the Vps41 subunit from the homotypic fusion and protein-sorting (HOPS) complex hampered the co-localization of Rab24 with RILP or with the lysosomal GTPase Arl8b, suggesting that Vps41 ..
  48. Foster B, Kuss P, Yadav M, Kolli T, Narisawa S, Lukashova L, et al. Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia. J Dent Res. 2017;96:81-91 pubmed publisher
    Loss-of-function mutations in ALPL result in hypophosphatasia (HPP), an inborn error of metabolism that causes defective skeletal and dental mineralization...
  49. Spang C, Chen J, Backman L. The tenocyte phenotype of human primary tendon cells in vitro is reduced by glucocorticoids. BMC Musculoskelet Disord. 2016;17:467 pubmed
    ..tenocyte markers scleraxis (Scx) and tenomodulin (Tnmd) and markers for other mesenchymal lineages, such as bone (Alpl, Ocn), cartilage (Acan, Sox9) and fat (Cebpα, Pparg) was measured via qPCR...
  50. Jones S, Ismail N, Pfaus J. Facilitation of sexual behavior in ovariectomized rats by estradiol and testosterone: A preclinical model of androgen effects on female sexual desire. Psychoneuroendocrinology. 2017;79:122-133 pubmed publisher
    ..All tests occurred in the bilevel pacing chamber. Frequencies of female appetitive (hops/darts, solicitations, level changes) and consummatory (lordosis quotient and magnitude) sexual behaviors as well as ..
  51. Dimova D, Bajorath J. Is scaffold hopping a reliable indicator for the ability of computational methods to identify structurally diverse active compounds?. J Comput Aided Mol Des. 2017;31:603-608 pubmed publisher
    ..of analog series was found to contain multiple scaffolds, thus enabling the detection of intra-series scaffold hops among closely related compounds...
  52. Langemeyer L, Perz A, Kümmel D, Ungermann C. A guanine nucleotide exchange factor (GEF) limits Rab GTPase-driven membrane fusion. J Biol Chem. 2018;293:731-739 pubmed publisher
    ..GEF, Mon1-Ccz1), a Rab-GDP dissociation inhibitor (GDI) complex (prenylated Ypt7-GDI), and a Rab effector complex (HOPS)...
  53. Numa N, Ishida Y, Nasu M, Sohda M, Misumi Y, Noda T, et al. Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain. FEBS J. 2008;275:2727-37 pubmed publisher
    Hypophosphatasia, a congenital metabolic disease related to the tissue-nonspecific alkaline phosphatase gene (TNSALP), is characterized by reduced serum alkaline phosphatase levels and defective mineralization of hard tissues...
  54. Palmieri A, Zollino I, Clauser L, Lucchese A, Girardi A, Farinella F, et al. Biological effect of resorbable plates on normal osteoblasts and osteoblasts derived from Pfeiffer syndrome. J Craniofac Surg. 2011;22:860-3 pubmed publisher
    ..This study also revealed some differences in gene expression between normal osteoblasts and osteoblasts derived from patients with Pfeiffer syndrome, cultivated on PLPG acid plates. ..
  55. Wei R, Li T, Yang X, Jia N, Yang X, Song H. Serum levels of PSA, ALP, ICTP, and BSP in prostate cancer patients and the significance of ROC curve in the diagnosis of prostate cancer bone metastases. Genet Mol Res. 2016;15: pubmed publisher
    ..In conclusion, serum levels of BSP, ALP, ICTP, and PSA increased in patients with bone metastases, and combined detection of all markers could improve the positive-predictive value. ..
  56. Hénaut L, Sanz A, Martin Sánchez D, Carrasco S, Villa Bellosta R, Aldamiz Echevarria G, et al. TWEAK favors phosphate-induced calcification of vascular smooth muscle cells through canonical and non-canonical activation of NFκB. Cell Death Dis. 2016;7:e2305 pubmed publisher
    ..transition, decreasing acta2 and myh11 and increasing bmp2 mRNA and tissue non-specific alkaline phosphatase (TNAP), and increases MMP9 activity...
  57. Tan X, Wei J, Li B, Wang M, Bao Y. AtVps11 is essential for vacuole biogenesis in embryo and participates in pollen tube growth in Arabidopsis. Biochem Biophys Res Commun. 2017;491:794-799 pubmed publisher
    ..Studies in Saccharomyces cerevisiae had identified a tethering factor HOPS (Homotypic Fusion and Vacuolar Protein Sorting) complex that plays a critical role in vacuole biogenesis...
  58. Blancafort L, Voityuk A. Thermally induced hopping model for long-range triplet excitation energy transfer in DNA. Phys Chem Chem Phys. 2018;20:4997-5000 pubmed publisher
    ..It consists of thermally induced hops through thymine bases...
  59. Sun Y, Zhang Z, Xu X, Hu Y, Luo X, Cai M, et al. Bioaccumulation and biomagnification of halogenated organic pollutants in mangrove biota from the Pearl River Estuary, South China. Mar Pollut Bull. 2015;99:150-6 pubmed publisher
    ..DDTs were the predominant HOPs in all biota species, followed by PCBs and PBDEs...
  60. Gupta A, Hilliard R, Mudie K, Clothier P. Does providing real-time augmented feedback affect the performance of repeated lower limb loading to exhaustion?. Gait Posture. 2016;44:204-8 pubmed publisher
    ..Without feedback, 21 of 27 participants maintained >70% of total hops at 2.2 ± 5% Hz and this was significantly lower (p=0.01) with tactile (13/27) and visual (15/27) feedback...
  61. Funck Brentano T, Ostertag A, Debiais F, Fardellone P, Collet C, Mornet E, et al. Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures. Joint Bone Spine. 2017;84:715-718 pubmed publisher
    ..Genetic screening for ALPL, SOX9, COL1A1 and COL1A2 variants was performed after patient's information and consent...
  62. Hunter M, Scourfield E, Emmott E, Graham S. VPS18 recruits VPS41 to the human HOPS complex via a RING-RING interaction. Biochem J. 2017;474:3615-3626 pubmed publisher
    ..conserved multisubunit membrane tethering complexes, including CORVET (class C core vacuole/endosome tethering) and HOPS (homotypic fusion and vacuole protein sorting), to control the fusion of endomembranes...
  63. Hassan S, Ejaz S, Saeed A, Shehzad M, Ullah Khan S, Lecka J, et al. 4-Aminopyridine based amide derivatives as dual inhibitors of tissue non-specific alkaline phosphatase and ecto-5'-nucleotidase with potential anticancer activity. Bioorg Chem. 2018;76:237-248 pubmed publisher
    ..1 ± 7.8 µM). This compound exhibited 6 times more selectivity towards h-TNAP over h-e5'NT...
  64. Lee A, Endo M, Hobbs J, Wälti C. Direct Single-Molecule Observation of Mode and Geometry of RecA-Mediated Homology Search. ACS Nano. 2017;: pubmed publisher
    ..via short-distance facilitated diffusions - or slides - interspersed with longer-distance random moves - or hops. Importantly, from the specific interaction geometry, we find that the double-stranded substrate DNA resides in the ..
  65. Weiss M, Ray K, Henthorn P, Lamb B, Kadesch T, Harris H. Structure of the human liver/bone/kidney alkaline phosphatase gene. J Biol Chem. 1988;263:12002-10 pubmed
    ..The relevance of our findings with respect to the evolution of the human alkaline phosphatase multigene family is discussed. ..
  66. Brum A, van de Peppel J, van der Leije C, Schreuders Koedam M, Eijken M, van der Eerden B, et al. Connectivity Map-based discovery of parbendazole reveals targetable human osteogenic pathway. Proc Natl Acad Sci U S A. 2015;112:12711-6 pubmed publisher
    ..alkaline phosphatase activity, mineralization, and up-regulation of bone marker genes (alkaline phosphatase/ALPL, osteopontin/SPP1, and bone sialoprotein II/IBSP) in a subset of the hMSC population resistant to the apoptotic ..
  67. Dhaliwal J, Marulanda J, Li J, Alebrahim S, Feine J, Murshed M. In vitro comparison of two titanium dental implant surface treatments: 3M™ESPE™ MDIs versus Ankylos®. Int J Implant Dent. 2017;3:27 pubmed publisher
    ..The Hoechst 33258-stained nuclei were counted to assay cell proliferation, while alkaline phosphatase (ALPL) immunostaining was performed to investigate osteogenic differentiation...
  68. Saito K, Matsuo Y, Imafuji H, Okubo T, Maeda Y, Sato T, et al. Xanthohumol inhibits angiogenesis by suppressing nuclear factor-?B activation in pancreatic cancer. Cancer Sci. 2017;: pubmed publisher
    Xantohumol, a prenylated chalcone from hops (Humulus lupulus L.), has been shown to inhibit proliferation in some cancers. However, little is known regarding the effects of xanthohumol in pancreatic cancer...
  69. Sandhu D, Ghosh J, Johnson C, Baumbach J, Baumert E, Cina T, et al. The endogenous transposable element Tgm9 is suitable for generating knockout mutants for functional analyses of soybean genes and genetic improvement in soybean. PLoS ONE. 2017;12:e0180732 pubmed publisher
    ..Analyses of Tgm9 insertion sites among 105 independent mutants demonstrated that Tgm9 hops to all 20 soybean chromosomes from its original location on Chromosome 17...
  70. Ozono K, Yamagata M, Michigami T, Nakajima S, Sakai N, Cai G, et al. Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. J Clin Endocrinol Metab. 1996;81:4458-61 pubmed
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    ..ALP)-related defective bone mineralization due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene...
  72. Michigami T, Uchihashi T, Suzuki A, Tachikawa K, Nakajima S, Ozono K. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr. 2005;164:277-82 pubmed
    ..included in a study analysing the relationship between mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene and the severity of the phenotype in Japanese patients with hypophosphatasia...
  73. Tenorio J, Alvarez I, Riancho Zarrabeitia L, Martos Moreno G, Mandrile G, de la Flor Crespo M, et al. Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. Am J Med Genet A. 2017;173:601-610 pubmed publisher
    ..dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified...
  74. Guex A, Puetzer J, Armgarth A, Littmann E, Stavrinidou E, Giannelis E, et al. Highly porous scaffolds of PEDOT:PSS for bone tissue engineering. Acta Biomater. 2017;62:91-101 pubmed publisher
    ..1µS·cm-1 after 28days in cell culture media. MC3T3-E1 gene expression levels of ALPL, COL1A1 and RUNX2 were significantly enhanced after 4weeks, in line with increased extracellular matrix ..
  75. Osburn K, Amaral J, Metcalf S, Nickens D, Rogers C, Sausen C, et al. Primary souring: A novel bacteria-free method for sour beer production. Food Microbiol. 2018;70:76-84 pubmed publisher
    ..In the case of craft beer, this has traditionally only encompassed locally sourced barley, hops, and other agricultural adjuncts. The identification and use of novel yeasts in brewing lags behind...
  76. Sato N, Takahashi Y, Asano S. Preferential usage of the bone-type leader sequence for the transcripts of liver/bone/kidney-type alkaline phosphatase gene in neutrophilic granulocytes. Blood. 1994;83:1093-101 pubmed
    ..The results show that the bone-type mRNA is predominantly transcribed in peripheral neutrophils and in neutrophils cultured in vitro. ..
  77. Al Shawafi H, Komaru K, Oda K. Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia. Mol Cell Biochem. 2017;427:169-176 pubmed publisher
    Mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP) cause hypophosphatasia (HPP), a genetic disorder characterized by deficiency of serum ALP and hypomineralization of bone and teeth...
  78. Tronina T, Strugała P, Popłoński J, Włoch A, Sordon S, Bartmańska A, et al. The Influence of Glycosylation of Natural and Synthetic Prenylated Flavonoids on Binding to Human Serum Albumin and Inhibition of Cyclooxygenases COX-1 and COX-2. Molecules. 2017;22: pubmed publisher
    ..was performed in one step reactions from xanthohumol (1)-major prenylated chalcone naturally occurring in hops. Obtained flavonoids (2-3) and xanthohumol (1) were used as substrates for regioselective ..
  79. Kalinowska K, Isono E. All roads lead to the vacuole-autophagic transport as part of the endomembrane trafficking network in plants. J Exp Bot. 2017;: pubmed publisher
    ..endocytic machineries, such as the endosomal sorting complex required for transport (ESCRT), subunits of the HOPS and exocyst complexes, SNAREs, and RAB GTPases as well as plant-specific proteins...
  80. Iida K, Fukushi J, Fujiwara T, Oda Y, Iwamoto Y. Adult hypophosphatasia with painful periarticular calcification treated with surgical resection. J Bone Miner Metab. 2012;30:722-5 pubmed publisher
    ..Surgical debridement of the calcified lesion was performed, and his symptoms were successfully ameliorated after the surgery. ..
  81. Zhang H, Ke Y, Wang C, Yue H, Hu W, Gu J, et al. Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia. Arch Med Res. 2012;43:21-30 pubmed publisher
    ..All 12 exons and the exon-intron boundaries of the ALPL gene were amplified and directly sequenced in two probands from unrelated Chinese families...
  82. Dabisch Ruthe M, Brock A, Kuzaj P, Charbel Issa P, Szliska C, Knabbe C, et al. Variants in genes encoding pyrophosphate metabolizing enzymes are associated with Pseudoxanthoma elasticum. Clin Biochem. 2014;47:60-7 pubmed publisher
    ..04 vs. 0.00; P=0.0024) and a high association with PXE susceptibility (OR 27.96). Polymorphisms in ALP, ENPP1 and ANKH are important genetic risk factors contributing to PXE. ..
  83. Rogerson C, Gissen P. The CHEVI tethering complex: facilitating special deliveries. J Pathol. 2016;240:249-252 pubmed publisher
    ..Interaction (CHEVI) complex, thought to act as a tethering complex in endosomal trafficking distinct from the HOPS and CORVET complexes in mammalian cells...
  84. Chen S, Chen P, Hsu H, Wu M, Yen J. Xanthohumol Suppresses Mylip/Idol Gene Expression and Modulates LDLR Abundance and Activity in HepG2 Cells. J Agric Food Chem. 2017;65:7908-7918 pubmed publisher
    Xanthohumol, a prenylated flavonoid found in hops (Humulus lupulus L.), exhibits multiple biological activities such as antiatherosclerosis and hypolipidemic activities...
  85. Woods P, Doolittle L, Hickman Davis J, DAVIS I. ATP catabolism by tissue non-specific alkaline phosphatase contributes to development of ARDS in influenza-infected mice. Am J Physiol Lung Cell Mol Physiol. 2017;:ajplung.00149.2017 pubmed publisher
    ..increased adenosine generation in response to infection is mediated by tissue non-specific alkaline phosphatase (TNAP), which is a low-affinity, high-capacity enzyme that catabolizes nucleotides in a non-specific manner...
  86. Romanelli F, Corbo A, Salehi M, Yadav M, Salman S, Petrosian D, et al. Overexpression of tissue-nonspecific alkaline phosphatase (TNAP) in endothelial cells accelerates coronary artery disease in a mouse model of familial hypercholesterolemia. PLoS ONE. 2017;12:e0186426 pubmed publisher
    Overexpression of tissue-nonspecific alkaline phosphatase (TNAP) in endothelium leads to arterial calcification in mice. The purpose of this study was to examine the effect of elevated endothelial TNAP on coronary atherosclerosis...
  87. Tahaei S, Couasnay G, Ma Y, Paria N, Gu J, Lemoine B, et al. The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent. Bone. 2018;106:103-111 pubmed publisher
    ..respectively) did not correct the differentiation defect of Nf1-deficient mBMSCs, as measured by the expression of Alpl, Ibsp and alkaline phosphatase activity...
  88. Nye K, Riley G, Pinching A. The defect seen in the phosphatidylinositol hydrolysis pathway in HIV-infected lymphocytes and lymphoblastoid cells is due to inhibition of the inositol 1,4,5-trisphosphate 1,3,4,5-tetrakisphosphate 5-phosphomonoesterase. Clin Exp Immunol. 1992;89:89-93 pubmed
  89. Fedde K, Whyte M. Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. Am J Hum Genet. 1990;47:767-75 pubmed
  90. Shigenari A, Ando A, Baba T, Yamamoto T, Katsuoka Y, Inoko H. Characterization of alkaline phosphatase genes expressed in seminoma by cDNA cloning. Cancer Res. 1998;58:5079-82 pubmed
    ..These results suggest that other than the PLAP family members, the expression of L/B/K AP is enhanced in seminoma and can serve as a tumor marker in seminoma. ..
  91. Haarhaus M, Arnqvist H, Magnusson P. Calcifying human aortic smooth muscle cells express different bone alkaline phosphatase isoforms, including the novel B1x isoform. J Vasc Res. 2013;50:167-74 pubmed publisher
    ..B/I, B1x and B2 could be essential for soft tissue calcification. B/I and B1x were more affected by tetramisole than the other isoforms, which suggests different biological functions during calcification of HAoSMCs. ..
  92. Keiler A, Helle J, Bader M, Ehrhardt T, Nestler K, Kretzschmar G, et al. A standardized Humulus lupulus (L.) ethanol extract partially prevents ovariectomy-induced bone loss in the rat without induction of adverse effects in the uterus. Phytomedicine. 2017;34:50-58 pubmed publisher
    b>Hops (Humulus lupulus (L.)) dietary supplements are of interest as herbal remedies to alleviate menopausal symptoms, such as hot flushes, depression and anxiety...