Disease-causing mutations of RhoGDIα induce Rac1 hyperactivation in podocytes
نویسندگان
چکیده
منابع مشابه
ARHGDIA: a novel gene implicated in nephrotic syndrome
BACKGROUND Congenital nephrotic syndrome arises from a defect in the glomerular filtration barrier that permits the unrestricted passage of protein across the barrier, resulting in proteinuria, hypoalbuminaemia, and severe oedema. While most cases are due to mutations in one of five genes, in up to 15% of cases, a genetic cause is not identified. We investigated two sisters with a presumed rece...
متن کاملThrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
Point mutations in the 5' UTR of ankyrin repeat domain 26 (ANKRD26) are associated with familial thrombocytopenia 2 (THC2) and a predisposition to leukemia. Here, we identified underlying mechanisms of ANKRD26-associated thrombocytopenia. Using megakaryocytes (MK) isolated from THC2 patients and healthy subjects, we demonstrated that THC2-associated mutations in the 5' UTR of ANKRD26 resulted i...
متن کاملThe structural context of disease-causing mutations in gap junctions.
Gap junctions form intercellular channels that mediate metabolic and electrical signaling between neighboring cells in a tissue. Lack of an atomic resolution structure of the gap junction has made it difficult to identify interactions that stabilize its transmembrane domain. Using a recently computed model of this domain, which specifies the locations of each amino acid, we postulated the exist...
متن کاملPitfalls in the phylogenomic evaluation of human disease-causing mutations
A detailed sequence comparison of the MSX homeobox family sheds light on its evolution and identifies new conserved motifs. But in the absence of corroborative genetic data, phylogenomics alone can provide only limited insights into the pathogenicity of heterozygous missense substitutions in human genes.
متن کاملDisease-causing missense mutations in actin binding domain 1 of dystrophin induce thermodynamic instability and protein aggregation.
Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD) most commonly through loss of protein expression. In a small subpopulation of patients, missense mutations can cause DMD, Becker muscular dystrophy, or X-linked cardiomyopathy. Nearly one-half of disease-causing missense mutations are located in actin-binding domain 1 (ABD1) of dystrophin. To test the hypothesis that ABD1 ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Small GTPases
سال: 2016
ISSN: 2154-1248,2154-1256
DOI: 10.1080/21541248.2015.1113353