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Related Concept Videos

Phosphorylation01:02

Phosphorylation

52.0K
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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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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What is the Skeletal System?01:02

What is the Skeletal System?

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Overview
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Bone Disorders01:29

Bone Disorders

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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
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Phosphate Buffer01:22

Phosphate Buffer

3.4K
The phosphate buffer system is a critical biological mechanism for maintaining pH stability in the body. This system operates primarily through two components: sodium dihydrogen phosphate (NaH2PO4), which acts as a weak acid, and sodium hydrogen phosphate (Na2HPO4), which serves as a weak base.
Sodium dihydrogen phosphate does not fully dissociate in neutral or acidic solutions. When a strong base, such as sodium hydroxide (NaOH), is introduced into the solution, sodium dihydrogen phosphate...
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Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
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Hypophosphatasia.

Symeon Tournis1, Maria P Yavropoulou2, Stergios A Polyzos3

  • 1Laboratory for the Research of Musculoskeletal System "Th. Garofalidis", School of Medicine, National and Kapodistrian University of Athens, KAT General Hospital, 14561 Athens, Greece.

Journal of Clinical Medicine
|December 10, 2021
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is a genetic disorder caused by mutations in the TNAP gene, leading to metabolic issues and varied symptoms. Enzyme replacement therapy with asfotase alfa offers a treatment for severe HPP cases.

Keywords:
alkaline phosphatasearthropathyasfotase alphabonefracturestooth loss

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Biochemistry

Background:

  • Hypophosphatasia (HPP) is an inherited metabolic disease stemming from loss-of-function mutations in the tissue non-specific alkaline phosphatase (TNAP) gene.
  • Reduced TNAP activity causes accumulation of substrates like inorganic pyrophosphate and pyridoxal-5'-phosphate, driving the disease's musculoskeletal and systemic manifestations.
  • Over 400 ALPL mutations are documented, with inheritance patterns including autosomal dominant and recessive modes.

Purpose of the Study:

  • To provide a comprehensive overview of Hypophosphatasia, including its genetic basis, clinical presentation, and management strategies.
  • To highlight the biochemical underpinnings of HPP and the role of TNAP enzyme activity.
  • To discuss current therapeutic approaches, particularly enzyme replacement therapy for severe forms.

Main Methods:

  • Review of existing literature on Hypophosphatasia, focusing on genetic mutations, clinical phenotypes, and treatment outcomes.
  • Analysis of the biochemical consequences of TNAP deficiency.
  • Examination of the efficacy and application of asfotase alfa in treating severe HPP.

Main Results:

  • HPP presents with a wide spectrum of severity, from in utero demise to asymptomatic adulthood, with skeletal, respiratory, and neurological issues in severe cases.
  • Low serum alkaline phosphatase is a key diagnostic marker.
  • Asfotase alfa has demonstrated success in treating severe, life-threatening HPP complications.

Conclusions:

  • Hypophosphatasia is a complex inherited disorder with significant clinical variability, necessitating a multidisciplinary approach to care.
  • Understanding the metabolic consequences of TNAP dysfunction is crucial for diagnosis and management.
  • Enzyme replacement therapy with asfotase alfa represents a significant advancement for patients with severe Hypophosphatasia.