scholarly journals The Cellular and Physiological Functions of the Lowe Syndrome Protein OCRL1

Traffic ◽  
2014 ◽  
Vol 15 (5) ◽  
pp. 471-487 ◽  
Author(s):  
Zenobia B. Mehta ◽  
Grzegorz Pietka ◽  
Martin Lowe
Keyword(s):  
Lowe Syndrome ◽  
Physiological Functions ◽  
Syndrome Protein

scholarly journals A Role of the Lowe Syndrome Protein OCRL in Early Steps of the Endocytic Pathway

2007 ◽  
Vol 13 (3) ◽  
pp. 377-390 ◽  
Author(s):  
Kai S. Erdmann ◽  
Yuxin Mao ◽  
Heather J. McCrea ◽  
Roberto Zoncu ◽  
Sangyoon Lee ◽  
...  
Keyword(s):  
Endocytic Pathway ◽  
Lowe Syndrome ◽  
Syndrome Protein

scholarly journals Structure and Function of the Lowe Syndrome Protein OCRL1

Traffic ◽  
2005 ◽  
Vol 6 (9) ◽  
pp. 711-719 ◽  
Author(s):  
Martin Lowe
Keyword(s):  
Structure And Function ◽  
Lowe Syndrome ◽  
And Function ◽  
Syndrome Protein

scholarly journals Lowe Syndrome Protein OCRL1 Supports Maturation of Polarized Epithelial Cells

PLoS ONE ◽  
2011 ◽  
Vol 6 (8) ◽  
pp. e24044 ◽  
Author(s):  
Adam G. Grieve ◽  
Rachel D. Daniels ◽  
Elena Sanchez-Heras ◽  
Matthew J. Hayes ◽  
Stephen E. Moss ◽  
...  
Keyword(s):  
Epithelial Cells ◽  
Lowe Syndrome ◽  
Polarized Epithelial Cells ◽  
Syndrome Protein

scholarly journals The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

Cilia ◽  
2012 ◽  
Vol 1 (S1) ◽  
Author(s):  
V Hernandez ◽  
BG Coon ◽  
K Madhivanan ◽  
D Mukherjee ◽  
CB Hanna ◽  
...  
Keyword(s):  
Primary Cilia ◽  
Lowe Syndrome ◽  
Syndrome Protein

scholarly journals The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

2012 ◽  
Vol 21 (8) ◽  
pp. 1835-1847 ◽  
Author(s):  
Brian G. Coon ◽  
Victor Hernandez ◽  
Kayalvizhi Madhivanan ◽  
Debarati Mukherjee ◽  
Claudia B. Hanna ◽  
...  
Keyword(s):  
Primary Cilia ◽  
Lowe Syndrome ◽  
Syndrome Protein

scholarly journals Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

2006 ◽  
Vol 25 (16) ◽  
pp. 3750-3761 ◽  
Author(s):  
Noora Hyvola ◽  
Aipo Diao ◽  
Eddie McKenzie ◽  
Alison Skippen ◽  
Shamshad Cockcroft ◽  
...  
Keyword(s):  
Lowe Syndrome ◽  
Membrane Targeting ◽  
Rab Gtpases ◽  
Syndrome Protein

scholarly journals The Lowe Syndrome Protein OCRL1 Is Required for Endocytosis in the Zebrafish Pronephric Tubule

PLoS Genetics ◽  
2015 ◽  
Vol 11 (4) ◽  
pp. e1005058 ◽  
Author(s):  
Francesca Oltrabella ◽  
Grzegorz Pietka ◽  
Irene Barinaga-Rementeria Ramirez ◽  
Aleksandr Mironov ◽  
Toby Starborg ◽  
...  
Keyword(s):  
Lowe Syndrome ◽  
Syndrome Protein

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

2015 ◽  
Vol 396 (12) ◽  
pp. 1293-1300 ◽  
Author(s):  
Shruti Sharma ◽  
Agnieszka Skowronek ◽  
Kai Sven Erdmann
Keyword(s):  
Genetic Disorders ◽  
Endocytic Pathway ◽  
Lowe Syndrome ◽  
Coated Pits ◽  
Golgi Network ◽  
Endocytic Compartments ◽  
Syndrome Protein

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.

scholarly journals Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network

2003 ◽  
Vol 12 (19) ◽  
pp. 2449-2456 ◽  
Author(s):  
A. Faucherre
Keyword(s):  
Lowe Syndrome ◽  
Rac Gtpase ◽  
Trans Golgi Network ◽  
Golgi Network ◽  
Syndrome Protein

scholarly journals Lowe Syndrome Protein OCRL1 Interacts with Clathrin and Regulates Protein Trafficking between Endosomes and the Trans-Golgi Network

2005 ◽  
Vol 16 (8) ◽  
pp. 3467-3479 ◽  
Author(s):  
Rawshan Choudhury ◽  
Aipo Diao ◽  
Fang Zhang ◽  
Evan Eisenberg ◽  
Agnes Saint-Pol ◽  
...  
Keyword(s):  
Protein Trafficking ◽  
Lowe Syndrome ◽  
Trans Golgi Network ◽  
Partial Redistribution ◽  
Oculocerebrorenal Syndrome ◽  
Early Endosomes ◽  
Golgi Network ◽  
Syndrome Protein ◽  
In Vitro Interaction

Oculocerebrorenal syndrome of Lowe is caused by mutation of OCRL1, a phosphatidylinositol 4,5-bisphosphate 5-phosphatase localized at the Golgi apparatus. The cellular role of OCRL1 is unknown, and consequently the mechanism by which loss of OCRL1 function leads to disease is ill defined. Here, we show that OCRL1 is associated with clathrin-coated transport intermediates operating between the trans-Golgi network (TGN) and endosomes. OCRL1 interacts directly with clathrin heavy chain and promotes clathrin assembly in vitro. Interaction with clathrin is not, however, required for membrane association of OCRL1. Overexpression of OCRL1 results in redistribution of clathrin and the cation-independent mannose 6-phosphate receptor (CI-MPR) to enlarged endosomal structures that are defective in retrograde trafficking to the TGN. Depletion of cellular OCRL1 also causes partial redistribution of a CI-MPR reporter to early endosomes. These findings suggest a role for OCRL1 in clathrin-mediated trafficking of proteins from endosomes to the TGN and that defects in this pathway might contribute to the Lowe syndrome phenotype.

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