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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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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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Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.

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Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
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Hypophosphatasia.

Etienne Mornet1

  • 1Unité de Génétique Constitutionnelle, Service de Biologie, Centre Hospitalier de Versailles, 177 rue de Versailles, 78150 Le Chesnay, France.

Metabolism: Clinical and Experimental
|September 24, 2017
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is a rare inherited metabolic disorder affecting bone mineralization due to ALPL gene mutations. Diagnosis involves low alkaline phosphatase and genetic testing, with enzyme replacement therapy now available.

Keywords:
ALPL mutationGenotype-phenotype correlationHypophosphatasiaPrevalenceTNSALP

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Biochemistry

Background:

  • Hypophosphatasia (HPP) is a rare inherited metabolic disorder.
  • It presents a clinical spectrum from lethal prenatal forms to mild adult-onset symptoms.
  • HPP affects skeletal mineralization and is linked to ALPL gene mutations.

Purpose of the Study:

  • To review the clinical, pathophysiological, diagnostic, genetic, and molecular aspects of Hypophosphatasia.
  • To highlight the ALPL gene's role and the spectrum of HPP manifestations.
  • To discuss current and emerging therapeutic strategies for HPP.

Main Methods:

  • Review of clinical, pathophysiological, diagnostic, genetic, and molecular data on Hypophosphatasia.
  • Analysis of ALPL gene mutations and their correlation with clinical phenotypes.
  • Examination of diagnostic criteria, including serum alkaline phosphatase levels and genetic testing.

Main Results:

  • HPP is caused by loss-of-function mutations in the ALPL gene, encoding Tissue Nonspecific Alkaline Phosphatase (TNSALP).
  • Over 340 ALPL mutations identified contribute to significant clinical heterogeneity.
  • Diagnosis relies on low serum alkaline phosphatase activity and genetic confirmation of ALPL mutations.

Conclusions:

  • HPP exhibits a wide clinical and genetic variability, with genotype-phenotype correlations being imperfect.
  • Enzyme replacement therapy is a current treatment option for HPP.
  • Investigational therapies, including gene therapy, show promise for future HPP management.