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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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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.
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Roles of Electrolytes: Calcium and Phosphate01:27

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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.
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Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
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[Hypophosphatasia].

Eleni Tsiantouli1, Andrea Trombetti1, Serge Ferrari1

  • 1Service des maladies osseuses, Département des spécialités de médecine, Faculté de médecine et HUG, 1211 Genève 14.

Revue Medicale Suisse
|July 21, 2017
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is a rare genetic bone disorder. Diagnosis involves low alkaline phosphatase (ALP) and high ALP substrates, with enzyme replacement therapy offering new hope.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Bone Disease

Background:

  • Hypophosphatasia (HPP) is an inherited metabolic disorder.
  • It stems from mutations in the tissue nonspecific alkaline phosphatase (TNSALP) gene.
  • Adult HPP can mimic osteoporosis, causing fractures and pain.

Purpose of the Study:

  • To describe the clinical presentation and diagnostic criteria for Hypophosphatasia.
  • To highlight diagnostic challenges and differential diagnoses.
  • To discuss current and emerging therapeutic options for HPP.

Main Methods:

  • Review of clinical features including fractures and pain.
  • Biochemical analysis: low serum ALP, elevated ALP substrates (e.g., pyridoxal phosphate).
  • Genetic testing for TNSALP mutations.

Main Results:

  • Adult HPP presents with recurrent fractures, skeletal/muscular pain, and pseudofractures.
  • Differential diagnosis includes osteoporosis; bisphosphonates are contraindicated.
  • Diagnostic markers: low serum ALP (< 40 U/L) and high ALP substrates.
  • Early tooth loss and renal calcifications are key indicators.

Conclusions:

  • HPP diagnosis requires low ALP and high substrate levels, confirmed by genetic testing.
  • Misdiagnosis is common due to overlapping symptoms with other bone diseases.
  • Enzyme replacement therapy represents a significant advancement for severe HPP cases.