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Dental manifestations of hypophosphatasia: translational and clinical advances.
JBMR Plus
February 2025
Division of Biosciences, College of Dentistry, The Ohio State University, Columbus, OH, 43210, United States.
Hypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part by reducing levels of inorganic pyrophosphate (PP), an inhibitor of biomineralization. HPP onset in childhood contributes to rickets, including growth plate defects and impaired growth.
View Article and Find Full Text PDFAdult hypophosphatasia presenting with recurrent acute joint pain.
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Hypophosphatasia (HPP) is a genetic disorder due to pathological variants in ALPL, the gene encoding tissue-nonspecific alkaline phosphatase (ALP). HPP is typically associated with bone-related symptoms, such as bone deformity, fractures and bone pain in children, but can appear in adults with symptoms resembling arthritis. A 22-year-old male experienced repeated and severe sudden attacks of joint pain in the elbows and knees.
View Article and Find Full Text PDFStructural Insights into Broad-Range Polyphosphate Kinase 2‑II Enzymes Applicable for Pyrimidine Nucleoside Diphosphate Synthesis.
Chembiochem
January 2025
University of Freiburg: Albert-Ludwigs-Universitat Freiburg, Institute of Pharmaceutical Sciences, Albertstr. 25, 79104, Freiburg, GERMANY.
Polyphosphate kinases (PPK) play crucial roles in various biological processes, including energy storage and stress responses, through their interaction with inorganic polyphosphate (polyP) and the intracellular nucleotide pool. Members of the PPK family 2 (PPK2s) catalyse polyP‑consuming phosphorylation of nucleotides. In this study, we characterised two PPK2 enzymes from Bacillus cereus (BcPPK2) and Lysinibacillus fusiformis (LfPPK2) to investigate their substrate specificity and potential for selective nucleotide synthesis.
View Article and Find Full Text PDFIntra-articular injection of inorganic pyrophosphate improves IL-1β-induced cartilage damage in rat model of knee osteoarthritis in vivo.
Osteoarthr Cartil Open
March 2025
Université de Lorraine, CNRS (French National Centre for Scientific Research), IMoPA (Molecular Engineering and Articular Physiopathology), F-54000, Nancy, France.
Objective: Osteoarthritis (OA) is the most common form of chronic joint disease, affecting mainly the elderly population. This disorder is caused by cartilage degeneration with complex changes in the chondrocyte phenotype. Inorganic pyrophosphate (PPi) was shown to counteract the detrimental effect of interleukin (IL)-1β challenging in an in vitro OA model based on rat articular chondrocytes.
View Article and Find Full Text PDFPreparation and Thermal Performance Study of a Novel Organic-Inorganic Eutectic Phase Change Material Based on Sodium Acetate Trihydrate and Polyethylene Glycol for Heat Recovery.
Materials (Basel)
January 2025
School of Energy and Automotive Engineering, Shunde Polytechnic, Foshan 528300, China.
A novel organic-inorganic eutectic phase change material (PCM) based on sodium acetate trihydrate (SAT) and polyethylene glycol (PEG) was developed to meet the needs of heat recovery and building heating. Three kinds of PEG with different molecular weights were selected to form organic-inorganic eutectic PCM with SAT. The thermal properties of three series of SAT-PEG eutectic PCM were compared based on DSC results, focusing on the impact of PEG addition on the phase change temperature and enthalpy of SAT, as well as the melting uniformity.
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