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Related Concept Videos

Phosphoinositides and PIPs01:42

Phosphoinositides and PIPs

Phosphoinositides are a group of phospholipids containing a glycerol backbone with two fatty acid chains and a phosphate attached to a myoinositol sugar ring. The inositol head group extends into the cytoplasm, where it is modified by adding phosphate groups to form phosphatidylinositol phosphates or PIPs.
Different phosphoinositides are synthesized and recruited on the cytosolic face of the plasma membrane. The localization of specific phosphoinositides concentrated in separate membrane...
The Early Endosome: Endocytosis of Transferrin01:28

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Essential proteins such as insulin or low-density lipoprotein (LDL) and micronutrients such as iron enter a eukaryotic cell through receptor-mediated endocytosis. Subsequently, the early endosomes fuse with the vesicles containing such receptor-ligand complexes and play a vital role in sorting the incoming ligands and receptors. While the ligands are either degraded inside the vesicle or released into the cytosol, their receptors are returned to the plasma membrane for further rounds of...
IP3/DAG Signaling Pathway01:11

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Membrane lipids such as phosphatidylinositol (PI) are precursors for several membrane-bound and soluble second messengers. Specific kinases phosphorylate PI and produce phosphorylated inositol phospholipids. One such inositol phospholipids are the  phosphatidylinositol-4,5 bisphosphate [PI(4,5)P2], present in the inner half of the lipid bilayer. Upon ligand binding, GPCR stimulates Gq proteins to turn on phospholipase Cꞵ. Activated phospholipase Cꞵ cleaves PI(4,5)P2 and produces two-second...
Lysosomal Hydrolases01:22

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Protein Kinases and Phosphatases02:54

Protein Kinases and Phosphatases

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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Updated: Jul 5, 2026

Identification of Inositol Phosphate or Phosphoinositide Interacting Proteins by Affinity Chromatography Coupled to Western Blot or Mass Spectrometry
08:07

Identification of Inositol Phosphate or Phosphoinositide Interacting Proteins by Affinity Chromatography Coupled to Western Blot or Mass Spectrometry

Published on: July 26, 2019

Endosomal phosphoinositides and human diseases.

Anne-Sophie Nicot1, Jocelyn Laporte

  • 1Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U596, CNRS UMR 7104, Université Louis Pasteur de Strasbourg, Collège de France, 67404 Illkirch, France.

Traffic (Copenhagen, Denmark)
|April 24, 2008
PubMed
Summary

Endosomal phosphoinositides (PIs) regulate membrane trafficking. Mutations in PI-regulating enzymes cause genetic diseases like myopathies and neuropathies, suggesting membrane remodeling defects are a common cause.

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Identification of Inositol Phosphate or Phosphoinositide Interacting Proteins by Affinity Chromatography Coupled to Western Blot or Mass Spectrometry
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Radiolabeling and Quantification of Cellular Levels of Phosphoinositides by High Performance Liquid Chromatography-coupled Flow Scintillation
10:52

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Published on: January 6, 2016

Fluorescence-Based Measurements of Phosphatidylserine/Phosphatidylinositol 4-Phosphate Exchange Between Membranes
08:49

Fluorescence-Based Measurements of Phosphatidylserine/Phosphatidylinositol 4-Phosphate Exchange Between Membranes

Published on: March 14, 2021

Area of Science:

  • Cell Biology
  • Molecular Biology
  • Genetics

Background:

  • Phosphoinositides (PIs) are crucial lipid second messengers involved in cellular signaling and membrane trafficking.
  • Specific endosomal PIs, PtdIns3P and PtdIns(3,5)P(2), play key roles in intracellular membrane dynamics.
  • Dysregulation of PI metabolism is linked to various human genetic disorders.

Purpose of the Study:

  • To review the functions of endosomal PIs and their regulatory enzymes.
  • To explore the connection between PI metabolism defects and human diseases.
  • To propose membrane remodeling as a unifying pathological mechanism.

Main Methods:

  • Literature review of studies on phosphoinositides, PI kinases, and phosphatases.
  • Analysis of genetic data linking mutations in PI-metabolizing enzymes to specific diseases.
  • Synthesis of findings to establish a common pathological pathway.

Main Results:

  • Mutations in myotubularin and MTMR2/MTMR13 are associated with X-linked myopathy and Charcot-Marie-Tooth neuropathy, respectively.
  • Mutations in SAC3/FIG4 and PIKfyve are linked to peripheral neuropathies and corneal dystrophy.
  • These genetic defects highlight the critical role of endosomal PI metabolism in cellular homeostasis.

Conclusions:

  • Defects in the metabolism of endosomal phosphoinositides lead to significant human genetic diseases.
  • Impaired membrane remodeling is a common underlying mechanism in these PI-related disorders.
  • Understanding PI regulation offers potential therapeutic targets for myopathies, neuropathies, and corneal dystrophies.