Assay, Isolation and Characterization of Circulating Immune Complexes from Serum of Gastrointestinal Cancer, Stage III and IV Melanoma and Chronic Inflammatory Bowel Disease Patients

Oncology ◽  
1993 ◽  
Vol 50 (1) ◽  
pp. 27-34 ◽  
Author(s):  
C. Bartoloni ◽  
L. Guidi ◽  
R. Pili ◽  
Z.A. Lewis ◽  
A. Tricerri ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Immune Complexes ◽  
Bowel Disease ◽  
Gastrointestinal Cancer ◽  
Chronic Inflammatory Bowel Disease ◽  
Cancer Stage ◽  
Isolation And Characterization ◽  
Inflammatory Bowel ◽  
Chronic Inflammatory Bowel

scholarly journals Characterization of a L136P mutation in Formin-like 2 (FMNL2) from a patient with chronic inflammatory bowel disease

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0252428
Author(s):  
Raphael Trefzer ◽  
Orly Elpeleg ◽  
Tatyana Gabrusskaya ◽  
Polina Stepensky ◽  
Hagar Mor-Shaked ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Bowel Disease ◽  
Rho Gtpases ◽  
Functional Characterization ◽  
Actin Dynamics ◽  
Chronic Inflammatory Bowel Disease ◽  
Function Mechanism ◽  
Inflammatory Bowel ◽  
Chronic Inflammatory Bowel

Diaphanous related formins are highly conserved proteins regulated by Rho-GTPases that act as actin nucleation and assembly factors. Here we report the functional characterization of a non-inherited heterozygous FMNL2 p.L136P mutation carried by a patient who presented with severe very early onset inflammatory bowel disease (IBD). We found that the FMNL2 L136P protein displayed subcellular mislocalization and deregulated protein autoinhibition indicating gain-of-function mechanism. Expression of FMNL2 L136P impaired cell spreading as well as filopodia formation. THP-1 macrophages expressing FMNL2 L136P revealed dysregulated podosome formation and a defect in matrix degradation. Our data indicate that the L136P mutation affects cellular actin dynamics in fibroblasts and immune cells such as macrophages.

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