Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 229.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Deprecated: Implicit conversion from float 263.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534
Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26979938
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Sci+Rep
2016 ; 6
(ä): 23204
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
C9orf72 ablation causes immune dysregulation characterized by leukocyte
expansion, autoantibody production, and glomerulonephropathy in mice
#MMPMID26979938
Atanasio A
; Decman V
; White D
; Ramos M
; Ikiz B
; Lee HC
; Siao CJ
; Brydges S
; LaRosa E
; Bai Y
; Fury W
; Burfeind P
; Zamfirova R
; Warshaw G
; Orengo J
; Oyejide A
; Fralish M
; Auerbach W
; Poueymirou W
; Freudenberg J
; Gong G
; Zambrowicz B
; Valenzuela D
; Yancopoulos G
; Murphy A
; Thurston G
; Lai KM
Sci Rep
2016[Mar]; 6
(ä): 23204
PMID26979938
show ga
The expansion of a hexanucleotide (GGGGCC) repeat in C9ORF72 is the most common
cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Both the function of C9ORF72 and the mechanism by which the repeat expansion
drives neuropathology are unknown. To examine whether C9ORF72 haploinsufficiency
induces neurological disease, we created a C9orf72-deficient mouse line. Null
mice developed a robust immune phenotype characterized by myeloid expansion, T
cell activation, and increased plasma cells. Mice also presented with elevated
autoantibodies and evidence of immune-mediated glomerulonephropathy.
Collectively, our data suggest that C9orf72 regulates immune homeostasis and an
autoimmune response reminiscent of systemic lupus erythematosus (SLE) occurs in
its absence. We further imply that haploinsufficiency is unlikely to be the
causative factor in C9ALS/FTD pathology.