scholarly journals Identification and functional characterization of nadrin variants, a novel family of GTPase activating protein for rho GTPases

2004 ◽  
Vol 82 (5) ◽  
pp. 1018-1028 ◽  
Author(s):  
Birei Furuta ◽  
Ayako Harada ◽  
Yoko Kobayashi ◽  
Ken-ichi Takeuchi ◽  
Tetsuyuki Kobayashi ◽  
...  
2011 ◽  
Vol 79 (5) ◽  
pp. 1151-1167 ◽  
Author(s):  
Min Jin Kwon ◽  
Mark Arentshorst ◽  
Eelke D. Roos ◽  
Cees A. M. J. J. van den Hondel ◽  
Vera Meyer ◽  
...  

2006 ◽  
Vol 5 (8) ◽  
pp. 1437-1449 ◽  
Author(s):  
Zhiyou Fang ◽  
Yong Miao ◽  
Xia Ding ◽  
Hui Deng ◽  
Siqi Liu ◽  
...  

PLoS ONE ◽  
2021 ◽  
Vol 16 (5) ◽  
pp. e0252428
Author(s):  
Raphael Trefzer ◽  
Orly Elpeleg ◽  
Tatyana Gabrusskaya ◽  
Polina Stepensky ◽  
Hagar Mor-Shaked ◽  
...  

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.


2020 ◽  
Vol 477 (7) ◽  
pp. 1261-1286 ◽  
Author(s):  
Marie Anne Richard ◽  
Hannah Pallubinsky ◽  
Denis P. Blondin

Brown adipose tissue (BAT) has long been described according to its histological features as a multilocular, lipid-containing tissue, light brown in color, that is also responsive to the cold and found especially in hibernating mammals and human infants. Its presence in both hibernators and human infants, combined with its function as a heat-generating organ, raised many questions about its role in humans. Early characterizations of the tissue in humans focused on its progressive atrophy with age and its apparent importance for cold-exposed workers. However, the use of positron emission tomography (PET) with the glucose tracer [18F]fluorodeoxyglucose ([18F]FDG) made it possible to begin characterizing the possible function of BAT in adult humans, and whether it could play a role in the prevention or treatment of obesity and type 2 diabetes (T2D). This review focuses on the in vivo functional characterization of human BAT, the methodological approaches applied to examine these features and addresses critical gaps that remain in moving the field forward. Specifically, we describe the anatomical and biomolecular features of human BAT, the modalities and applications of non-invasive tools such as PET and magnetic resonance imaging coupled with spectroscopy (MRI/MRS) to study BAT morphology and function in vivo, and finally describe the functional characteristics of human BAT that have only been possible through the development and application of such tools.


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