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Related Concept Videos

Phosphorylation01:02

Phosphorylation

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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...
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Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

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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...
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The Phosphorus Cycle01:21

The Phosphorus Cycle

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Unlike carbon, water, and nitrogen, phosphorus is not present in the atmosphere as a gas. Instead, most phosphorus in the ecosystem exists as compounds, such as phosphate ions (PO43-), found in soil, water, sediment and rocks. Phosphorus is often a limiting nutrient (i.e., in short supply). Consequently, phosphorus is added to most agricultural fertilizers, which can cause environmental problems related to runoff in aquatic ecosystems.
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Phosphoinositides and PIPs01:42

Phosphoinositides and PIPs

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Phosphoinositides are a group of phospholipids containing a glycerol backbone with two fatty acid chains and a phosphate attached to a myoinositol sugar ring. The inositol head group extends into the cytoplasm, where it is modified by adding phosphate groups to form phosphatidylinositol phosphates or PIPs.
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
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Introduction to Electrolytes01:33

Introduction to Electrolytes

12.6K
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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Roles of Electrolytes: Calcium and Phosphate01:27

Roles of Electrolytes: Calcium and Phosphate

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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...
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Updated: Sep 13, 2025

Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model
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Skeletal Phenotype Analysis of a Conditional Stat3 Deletion Mouse Model

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Hypophosphatasia: A case report.

Angad Singh Gill1,2, Pallavi Sharma1,2, Mahmoud Nassar1,3

  • 1Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, Buffalo, NY 14221, United States.

World Journal of Clinical Cases
|July 29, 2025
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is a rare disorder causing low alkaline phosphatase activity, leading to bone issues. Early diagnosis via genetic testing and enzyme replacement therapy can improve outcomes for patients with HPP.

Keywords:
Adult-onset hypophosphatasiaAsfotase alfaCase reportEnzyme replacement therapyHypophosphatasiaLow alkaline phosphatase levelsOsteopeniaRare metabolic disordersSkeletal hypomineralizationTissue-nonspecific alkaline phosphataseVitamin B6 metabolism

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Area of Science:

  • Endocrinology
  • Metabolic Disorders
  • Genetics

Background:

  • Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient tissue-nonspecific alkaline phosphatase (ALP) activity.
  • Symptoms range from bone demineralization and skeletal abnormalities to premature tooth loss, impacting multiple organ systems.

Observation:

  • A 65-year-old female presented with generalized bone pain and hypothyroidism, exhibiting osteopenia.
  • Persistent low ALP levels and elevated vitamin B6 prompted further investigation.
  • Genetic testing confirmed HPP by identifying a pathogenic ALPL gene variant.

Findings:

  • Despite conservative management with calcium and vitamin D, the patient experienced a decline in bone density.
  • Fracture risk assessment indicated a low probability of major osteoporotic or hip fractures.
  • Enzyme replacement therapy with asfotase alfa is planned.

Implications:

  • This case underscores the importance of considering HPP in patients with unexplained bone pain and low ALP, particularly those with osteopenia or osteoporosis.
  • Timely diagnosis through genetic analysis and appropriate treatment, such as enzyme replacement therapy, are crucial for managing HPP and preventing severe complications.