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Related Concept Videos

Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

Proteins undergo chemical modifications that trigger changes in the charge, structure, and conformation of the proteins. Phosphorylation, acetylation, glycosylation, nitrosylation, ubiquitination, lipidation, methylation, and proteolysis are various protein modifications that regulate protein activity. Such modifications are usually enzyme-driven.
Protein kinases
Many proteins in the cell are regulated by phosphorylation, the addition of a phosphate group. A family of enzymes called kinases...
Phosphorylation01:02

Phosphorylation

The addition or removal of phosphate groups from proteins is the most common chemical modification that regulates cellular processes. These modifications can affect the structure, activity, stability, and localization of proteins within cells as well as their interactions with other proteins.
During phosphorylation, protein kinases transfer the terminal phosphate group of ATP to specific amino acid side chains of substrate proteins. Serine, threonine, and tyrosine are the most commonly...
Roles of Electrolytes: Calcium and Phosphate01:27

Roles of Electrolytes: Calcium and Phosphate

Calcium and phosphate are essential electrolytes in the human body, with calcium being the most abundant mineral. Around 99% of the body's calcium is stored in the skeleton and teeth, forming a crystal lattice of mineral salts in combination with phosphates. Calcium plays crucial roles in various bodily functions such as blood clotting, neurotransmitter release, muscle tone maintenance, and nervous and muscle tissue excitability.
The calcium concentration in blood plasma is primarily regulated...
What is the Skeletal System?01:02

What is the Skeletal System?

Overview
Introduction to Electrolytes01:33

Introduction to Electrolytes

In humans, electrolytes play a vital role in various physiological processes. Balancing electrolyte levels is essential for normal body functions; their imbalance can be life-threatening. The major electrolytes include sodium, potassium, chloride, calcium, phosphate, and bicarbonate. They are primarily involved in physiological processes, such as nerve signal transmission, membrane trafficking, muscle contraction, buffering body fluids, and balancing water levels in the body.
Role of Sodium
One...

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Related Experiment Video

Updated: May 9, 2026

Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors
08:45

Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors

Published on: July 17, 2020

Hypophosphatasia.

Cheryl Rockman-Greenberg1

  • 1Department of Pediatrics and Child Health, University of Manitoba, Child Health Programme, Winnipeg Regional Health Authority, Winnipeg, MB. cgreenberg@exchange.hsc.mb.ca

Pediatric Endocrinology Reviews : PER
|July 18, 2013
PubMed
Summary

Hypophosphatasia (HPP) is a rare genetic disorder caused by mutations affecting alkaline phosphatase. This condition leads to bone mineralization defects and various systemic complications, with no approved specific therapy currently available.

Area of Science:

  • Genetics
  • Metabolic Disorders
  • Skeletal Biology

Background:

  • Hypophosphatasia (HPP) is a rare, inherited metabolic disorder.
  • It stems from loss-of-function mutations in the gene for tissue-nonspecific alkaline phosphatase (TNSALP).
  • Over 260 genetic mutations are linked to HPP, causing significant health issues.

Purpose of the Study:

  • To summarize the key aspects of Hypophosphatasia.
  • To highlight the genetic basis and clinical manifestations of HPP.
  • To underscore the current lack of specific therapies.

Main Methods:

  • Review of existing literature on Hypophosphatasia.
  • Analysis of genetic mutations associated with TNSALP.
  • Compilation of clinical presentations and systemic complications.

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Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

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Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis
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Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis

Published on: June 24, 2018

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Last Updated: May 9, 2026

Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors
08:45

Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors

Published on: July 17, 2020

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
08:42

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

Published on: July 3, 2020

Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis
14:55

Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis

Published on: June 24, 2018

Main Results:

  • Disordered bone mineralization leading to rickets, osteomalacia, and fractures.
  • Systemic complications include seizures, respiratory issues, dental anomalies, and chronic pain.
  • HPP affects all age groups, with higher mortality in severe infantile cases.

Conclusions:

  • Low alkaline phosphatase is a key diagnostic marker for HPP.
  • Supportive care is beneficial, but no specific HPP therapy is currently approved.
  • HPP significantly impacts quality of life, necessitating further research and treatment development.