Startseite The role of the Lowe syndrome protein OCRL in the endocytic pathway
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The role of the Lowe syndrome protein OCRL in the endocytic pathway

  • Shruti Sharma , Agnieszka Skowronek und Kai Sven Erdmann EMAIL logo
Veröffentlicht/Copyright: 30. Juli 2015
Biological Chemistry
Aus der Zeitschrift Biological Chemistry Band 396 Heft 12

Abstract

Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects. Lowe syndrome is furthermore characterized by defects of the eye (congenital cataracts) and nervous system (mental disabilities, hypotonia). OCRL has been localised to various endocytic compartments suggesting impairments in the endocytic pathway as possible disease mechanism. Recent evidence strongly supports this view and shows essential roles of OCRL at clathrin coated pits, transport of cargo from endosomes to the trans-Golgi network as well as recycling of receptors from endosomes to the plasma membrane. In particular in vitro and in vivo evidence demonstrates an important role of OCRL in recycling of megalin, a multi-ligand receptor crucial for reabsorption of nutrients in the proximal tubulus, a process severely impaired in Lowe syndrome patients. Thus defects in the endocytic pathway are likely to significantly contribute to the kidney phenotype in Lowe syndrome and Dent-II disease.

Keywords: endocytosis; Lowe syndrome; megalin; membrane trafficking; OCRL; recycling
Corresponding author: Kai Sven Erdmann, Department of Biomedical Science and Centre for Membrane Interactions and Dynamics, University of Sheffield, Western Bank, Sheffield, S10 2TN, UK, e-mail:

Acknowledgments

We would like to thank Dr. Martin Lowe (University of Manchester, UK) for critical reading of the manuscript. This work was supported by a Marie Curie career integration grant (CIG) ‘Endosignal’ to K.S.E.

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Received: 2015-5-19
Accepted: 2015-7-15
Published Online: 2015-7-30
Published in Print: 2015-12-1

©2015 by De Gruyter

Artikel in diesem Heft

  1. Frontmatter
  2. Reviews
  3. The intersection between viral oncolysis, drug resistance, and autophagy
  4. What can lipidomics tell us about the pathogenesis of Alzheimer disease?
  5. Minireview
  6. The role of the Lowe syndrome protein OCRL in the endocytic pathway
  7. Research Articles/Short Communications
  8. Genes and Nucleic Acids
  9. Systematic analysis of the contribution of c-myc mRNA constituents upon cap and IRES mediated translation
  10. Protein Structure and Function
  11. The double mutation L109M and R448M of HIV-1 reverse transcriptase decreases fidelity of DNA synthesis by promoting mismatch elongation
  12. The role of Bni5 in the regulation of septin higher-order structure formation
  13. Cell Biology and Signaling
  14. Extracellular localization of catalase is associated with the transformed state of malignant cells
  15. The importin α/β-specific inhibitor Ivermectin affects HIF-dependent hypoxia response pathways
  16. Proteolysis
  17. Inactivation of human kininogen-derived antimicrobial peptides by secreted aspartic proteases produced by the pathogenic yeast Candida albicans
  18. Corrigendum
  19. Corrigendum to: Potential importance of Maackia amurensis agglutinin in non-small cell lung cancer
https://doi.org/10.1515/hsz-2015-0180
Schlagwörter für diesen Artikel
endocytosis; Lowe syndrome; megalin; membrane trafficking; OCRL; recycling

Artikel in diesem Heft

  1. Frontmatter
  2. Reviews
  3. The intersection between viral oncolysis, drug resistance, and autophagy
  4. What can lipidomics tell us about the pathogenesis of Alzheimer disease?
  5. Minireview
  6. The role of the Lowe syndrome protein OCRL in the endocytic pathway
  7. Research Articles/Short Communications
  8. Genes and Nucleic Acids
  9. Systematic analysis of the contribution of c-myc mRNA constituents upon cap and IRES mediated translation
  10. Protein Structure and Function
  11. The double mutation L109M and R448M of HIV-1 reverse transcriptase decreases fidelity of DNA synthesis by promoting mismatch elongation
  12. The role of Bni5 in the regulation of septin higher-order structure formation
  13. Cell Biology and Signaling
  14. Extracellular localization of catalase is associated with the transformed state of malignant cells
  15. The importin α/β-specific inhibitor Ivermectin affects HIF-dependent hypoxia response pathways
  16. Proteolysis
  17. Inactivation of human kininogen-derived antimicrobial peptides by secreted aspartic proteases produced by the pathogenic yeast Candida albicans
  18. Corrigendum
  19. Corrigendum to: Potential importance of Maackia amurensis agglutinin in non-small cell lung cancer
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