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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.
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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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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.

Agnès Linglart1,2, Martin Biosse-Duplan3,4

  • 1Department of Pediatric Endocrinology and Diabetology for Children, APHP, Bicêtre Paris Sud, Le Kremlin Bicêtre, 94270, France. agnes.linglart@aphp.fr.

Current Osteoporosis Reports
|April 17, 2016
PubMed
Summary

Hypophosphatasia, a rare genetic disorder, stems from ALPL gene mutations causing low alkaline phosphatase (ALP) activity. Enzyme replacement therapy shows promise, but multidisciplinary care is crucial for managing this heterogeneous condition.

Keywords:
Alkaline phosphataseAsfotase alfaCraniosynostosisExfoliated teethHypophosphatasiaRickets

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Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Hypophosphatasia is a rare genetic disorder caused by mutations in the ALPL gene.
  • This leads to diminished alkaline phosphatase (ALP) activity in bone, liver, and kidney.
  • The disease presents heterogeneously, from severe infantile forms to milder adult presentations.

Purpose of the Study:

  • To review diagnostic challenges in hypophosphatasia.
  • To discuss current and emerging therapeutic strategies.
  • To highlight the importance of multidisciplinary care.

Main Methods:

  • Review of clinical, biochemical, radiological, and genetic diagnostic criteria.
  • Analysis of enzyme replacement therapy outcomes.
  • Assessment of multidisciplinary care components.

Main Results:

  • Diagnosis typically involves low ALP levels and ALPL gene mutations.
  • Enzyme replacement therapy shows encouraging early results for severe hypophosphatasia.
  • Multidisciplinary care is essential for comprehensive management.

Conclusions:

  • Accurate diagnosis of hypophosphatasia requires integrated clinical and genetic evaluation.
  • Enzyme replacement therapy offers a new treatment avenue.
  • Holistic patient management involving nutrition, physical therapy, and dental care is vital.