Hypophosphatasia: A Unique Disorder of Bone Mineralization

Hypophosphatasia: A Unique Disorder of Bone Mineralization

Hypophosphatasia (HPP) is a rare genetic disease characterized by a decrease in the activity of tissue non-specific alkaline phosphatase (TNSALP). TNSALP is encoded by the <i>ALPL</i> gene, which is abundantly expressed in the skeleton, liver, kidney, and developing teeth. HPP exhibits h...

Full description

Bibliographic Details
Main Authors:	Juan Miguel Villa-Suárez, Cristina García-Fontana, Francisco Andújar-Vera, Sheila González-Salvatierra, Tomás de Haro-Muñoz, Victoria Contreras-Bolívar, Beatriz García-Fontana, Manuel Muñoz-Torres
Format:	Article
Language:	English
Published:	MDPI AG 2021-04-01
Series:	International Journal of Molecular Sciences
Subjects:	hypophosphatasia TNSALP pyridoxal-5′-phosphate genotype-phenotype asfotase alfa
Online Access:	https://www.mdpi.com/1422-0067/22/9/4303

Similar Items

Hypophosphatasia: from birth to adulthood
by: Fernanda Salles Reis, et al.
Published: (2023-06-01)

Effect of asfotase alfa in the treatment of hypophosphatasia- A systematic review
by: N Jaswanthi, et al.
Published: (2023-01-01)

Asfotase Alfa Treatment in a 2-year-old Girl with Childhood Hypophosphatasia
by: Gönül Çatlı, et al.
Published: (2022-06-01)

A Case of Hypophosphatasia With Normal Alkaline Phosphatase Levels
by: Antara Dattagupta, MD, MEng, et al.
Published: (2024-03-01)

Cutaneous lesions in the setting of hypophosphatasia
by: Nancy W. Shen, BA, et al.
Published: (2023-12-01)

Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene
by: Luis Martínez-Heredia, et al.
Published: (2024-01-01)

Hypophosphatasia
by: Symeon Tournis, et al.
Published: (2021-12-01)

Childhood Hypophosphatasia Associated with a Novel Biallelic <i>ALPL</i> Variant at the TNSALP Dimer Interface
by: Luciane Martins, et al.
Published: (2022-12-01)

Hypophosphatasia: The Unusual Presentation
by: Consolato M. Sergi
Published: (2020-12-01)

Hypophosphatasia: A Novel Mutation Associated with an Atypical Newborn Presentation
by: Roger Esmel-Vilomara, et al.
Published: (2020-03-01)

Growth and disease burden in children with hypophosphatasia
by: Wolfgang Högler, et al.
Published: (2023-05-01)

Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults
by: Xiang Li, et al.
Published: (2023-04-01)

Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia
by: Donghyun Lee, et al.
Published: (2023-12-01)

Dental manifestation and management of hypophosphatasia
by: Rena Okawa, et al.
Published: (2022-11-01)

Ankylosed Primary Molar in a Japanese Child with Hypophosphatasia
by: Masakazu Hamada, et al.
Published: (2020-12-01)

The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces
by: Izabela Michałus, et al.
Published: (2022-03-01)

Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population
by: Oleg S. Glotov, et al.
Published: (2022-10-01)

Compromised Muscle Properties in a Severe Hypophosphatasia Murine Model
by: Emily G. Pendleton, et al.
Published: (2023-11-01)

An attenuated, adult case of AADC deficiency demonstrated by protein characterization
by: Giovanni Bisello, et al.
Published: (2024-06-01)

Pyridoxal 5′-Phosphate-Dependent Enzymes at the Crossroads of Host–Microbe Tryptophan Metabolism
by: Barbara Cellini, et al.
Published: (2020-08-01)

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia
by: Luigia Cinque, et al.
Published: (2023-08-01)

Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5′-Phosphate Oxidase-Dependent Epilepsy
by: Anna Barile, et al.
Published: (2021-11-01)

A Novel Two-Dimensional Liquid Chromatography Combined with Ultraviolet Detection Method for Quantitative Determination of Pyridoxal 5′-Phosphate, 4-Pyridoxine Acid and Pyridoxal in Animal Plasma
by: Rong-Ju Yang, et al.
Published: (2023-04-01)

A Case of the Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of the ALPL Gene and Report of One Year Follow-up with Enzyme Replacement Therapy
by: Bülent Hacıhamdioğlu, et al.
Published: (2019-09-01)

Vitamin B6 Status among Vegetarians: Findings from a Population-Based Survey
by: Paula Schorgg, et al.
Published: (2021-05-01)

Osteomalacia Is Not a Single Disease
by: Luisella Cianferotti
Published: (2022-11-01)

Self-Healing Chitosan Hydrogels: Preparation and Rheological Characterization
by: Anda Mihaela Craciun, et al.
Published: (2022-06-01)

Depressive Symptoms in Middle-Aged and Elderly Women Are Associated with a Low Intake of Vitamin B6: A Cross-Sectional Study
by: Tamami Odai, et al.
Published: (2020-11-01)

A Novel Aminoacyl-tRNA Synthetase Appended Domain Can Supply the Core Synthetase with Its Amino Acid Substrate
by: Marc Muraski, et al.
Published: (2020-11-01)

Association between Intake of Total Dairy and Individual Dairy Foods and Markers of Folate, Vitamin B<sub>6</sub> and Vitamin B<sub>12</sub> Status in the U.S. Population
by: Christopher J. Cifelli, et al.
Published: (2022-06-01)

Associations of serum vitamin B6 status with the risks of cardiovascular, cancer, and all-cause mortality in the elderly
by: Pengxi Wang, et al.
Published: (2024-04-01)

Pyridoxal 5′-Phosphate Biosynthesis by Pyridox-(am)-ine 5′-Phosphate Oxidase: Species-Specific Features
by: Maribel Rivero, et al.
Published: (2024-03-01)

Three serendipitous pathways in E. coli can bypass a block in pyridoxal‐5′‐phosphate synthesis
by: Juhan Kim, et al.
Published: (2010-01-01)

Complexation of Gold(III) with Pyridoxal 5′-Phosphate-Derived Hydrazones in Aqueous Solution
by: Natalia N. Kuranova, et al.
Published: (2022-10-01)

Effects of maternal vitamin deficiency on the microstructure of the maternal hippocampus and behavior in offspring
by: Ashwija Shetty, Msc, et al.
Published: (2023-10-01)

A specialized role played by a redox cofactor
by: Shengling Xie, et al.
Published: (2022-03-01)

FINDING HYPOPHOSPHASIA. LOW LEVEL OF ALKALINE PHOSPHATASE PATIENTS SCREENING
by: A. V. Vitebskaya, et al.
Published: (2017-12-01)

A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype
by: Mauro Borghi, et al.
Published: (2023-09-01)

Vitamin B6, Inflammation, and Cardiovascular Outcome in a Population-Based Cohort: The Prevention of Renal and Vascular End-Stage Disease (PREVEND) Study
by: Isidor Minović, et al.
Published: (2020-09-01)

Association of Serum Vitamin B6 with All-Cause and Cause-Specific Mortality in a Prospective Study
by: Donghui Yang, et al.
Published: (2021-08-01)