scholarly journals A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

2017 ◽  
Vol 25 (12) ◽  
pp. 1324-1334 ◽  
Author(s):  
Rafiullah Rafiullah ◽  
Alyssa B. Long ◽  
Anna A. Ivanova ◽  
Hazrat Ali ◽  
Simone Berkel ◽  
...  
2004 ◽  
Vol 12 (7) ◽  
pp. 561-566 ◽  
Author(s):  
Anne Fogli ◽  
Raphael Schiffmann ◽  
Lynne Hugendubler ◽  
Patricia Combes ◽  
Enrico Bertini ◽  
...  

2003 ◽  
Vol 185 (16) ◽  
pp. 4992-4996 ◽  
Author(s):  
Mark P. Stevens ◽  
Andrea Friebel ◽  
Lowrie A. Taylor ◽  
Michael W. Wood ◽  
Philip J. Brown ◽  
...  

ABSTRACT We report the characterization of BopE, a type III secreted protein that is encoded adjacent to the Burkholderia pseudomallei bsa locus and is homologous to Salmonella enterica SopE/SopE2. Inactivation of bopE impaired bacterial entry into HeLa cells, indicating that BopE facilitates invasion. Consistent with this notion, BopE expressed in eukaryotic cells induced rearrangements in the subcortical actin cytoskeleton, and purified BopE exhibited guanine nucleotide exchange factor activity for Cdc42 and Rac1 in vitro.


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