Tissue-Nonspecific Alkaline Phosphatase—A Gatekeeper of Physiological Conditions in Health and a Modulator of Biological Environments in Disease
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-220096
- Tissue-nonspecific alkaline phosphatase (TNAP) is a ubiquitously expressed enzyme that is best known for its role during mineralization processes in bones and skeleton. The enzyme metabolizes phosphate compounds like inorganic pyrophosphate and pyridoxal-5′-phosphate to provide, among others, inorganic phosphate for the mineralization and transportable vitamin B6 molecules. Patients with inherited loss of function mutations in the ALPL gene and consequently altered TNAP activity are suffering from the rare metabolic disease hypophosphatasiaTissue-nonspecific alkaline phosphatase (TNAP) is a ubiquitously expressed enzyme that is best known for its role during mineralization processes in bones and skeleton. The enzyme metabolizes phosphate compounds like inorganic pyrophosphate and pyridoxal-5′-phosphate to provide, among others, inorganic phosphate for the mineralization and transportable vitamin B6 molecules. Patients with inherited loss of function mutations in the ALPL gene and consequently altered TNAP activity are suffering from the rare metabolic disease hypophosphatasia (HPP). This systemic disease is mainly characterized by impaired bone and dental mineralization but may also be accompanied by neurological symptoms, like anxiety disorders, seizures, and depression. HPP characteristically affects all ages and shows a wide range of clinical symptoms and disease severity, which results in the classification into different clinical subtypes. This review describes the molecular function of TNAP during the mineralization of bones and teeth, further discusses the current knowledge on the enzyme’s role in the nervous system and in sensory perception. An additional focus is set on the molecular role of TNAP in health and on functional observations reported in common laboratory vertebrate disease models, like rodents and zebrafish.…
Autor(en): | Daniel LiedtkeORCiD, Christine Hofmann, Franz Jakob, Eva Klopocki, Stephanie Graser |
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URN: | urn:nbn:de:bvb:20-opus-220096 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Medizinische Fakultät / Kinderklinik und Poliklinik |
Medizinische Fakultät / Institut für Humangenetik | |
Medizinische Fakultät / Lehrstuhl für Orthopädie | |
Sprache der Veröffentlichung: | Englisch |
Titel des übergeordneten Werkes / der Zeitschrift (Englisch): | Biomolecules |
ISSN: | 2218-273X |
Erscheinungsjahr: | 2020 |
Verlag: | MDPI |
Band / Jahrgang: | 10 |
Heft / Ausgabe: | 12 |
Aufsatznummer: | 1648 |
Originalveröffentlichung / Quelle: | Biomolecules 2020, 10(12), 1648; https://doi.org/10.3390/biom10121648 |
DOI: | https://doi.org/10.3390/biom10121648 |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Freie Schlagwort(e): | ALPL; HPP; TNAP; craniosynostosis; hypophosphatasia; mineralization; nervous system; teeth; zebrafish |
Datum der Freischaltung: | 16.03.2021 |
Datum der Erstveröffentlichung: | 08.12.2020 |
Open-Access-Publikationsfonds / Förderzeitraum 2020 | |
Lizenz (Deutsch): | CC BY: Creative-Commons-Lizenz: Namensnennung 4.0 International |