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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

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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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Bone Disorders01:29

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Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
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Hypophosphatasia.

Jonathan Samuel Fenn1, Nathan Lorde2, John Martin Ward3

  • 1Black Country Pathology Services, The Royal Wolverhampton NHS Trust, Wolverhampton, UK j.fenn1@nhs.net.

Journal of Clinical Pathology
|May 1, 2021
PubMed
Summary
This summary is machine-generated.

Hypophosphatasia (HPP) is an inherited disorder affecting bone and tooth mineralization due to ALPL gene mutations. Early diagnosis and enzyme replacement therapy are crucial for managing this heterogeneous condition.

Keywords:
biochemistrychemistryclinicalproteins

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Area of Science:

  • Genetics and Metabolic Disorders
  • Biochemistry
  • Pediatrics

Background:

  • Hypophosphatasia (HPP) is a rare inherited disorder characterized by impaired bone and tooth mineralization.
  • It stems from mutations in the ALPL gene, leading to reduced activity of tissue-nonspecific alkaline phosphatase (TNSALP).
  • HPP exhibits significant clinical heterogeneity, ranging from stillbirth to mild adult-onset symptoms.

Purpose of the Study:

  • To provide a comprehensive overview of Hypophosphatasia.
  • To highlight the genetic basis, clinical spectrum, and diagnostic criteria for HPP.
  • To emphasize the importance of early diagnosis and emerging treatment options.

Main Methods:

  • Review of existing literature on Hypophosphatasia.
  • Analysis of clinical and genetic characteristics of HPP.
  • Discussion of diagnostic approaches, including biochemical and genetic testing.
  • Examination of management strategies and therapeutic interventions.

Main Results:

  • HPP is caused by loss-of-function mutations in the ALPL gene.
  • Clinical manifestations vary widely, affecting bone and tooth mineralization.
  • Biochemical hallmarks include low serum alkaline phosphatase (ALP) activity and elevated TNSALP substrates.
  • Diagnosis is confirmed by ALPL gene sequencing.

Conclusions:

  • Effective management of HPP requires a multidisciplinary approach.
  • Enzyme replacement therapy offers a targeted treatment option.
  • Accurate and timely diagnosis is critical for initiating appropriate interventions and improving patient outcomes.