Disruption of MAGI2-RapGEF2-Rap1 signaling contributes to podocyte dysfunction in congenital nephrotic syndrome caused by mutations in MAGI2
نویسندگان
چکیده
منابع مشابه
MAGI2/S-SCAM outside brain.
Membrane-associated guanylate kinase with an inverted arrangement of protein-protein interaction domains (MAGI)2 (also called synaptic scaffolding molecule (S-SCAM), atrophin-1-interacting protein 1, activin receptor-interacting protein 1) is a scaffold protein that binds a wide variety of receptors, cell adhesion molecules and signalling molecules. It also interacts with other scaffold protein...
متن کاملKANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of progressive renal function decline and affects millions of people. In a recent study, 30% of SRNS cases evaluated were the result of monogenic mutations in 1 of 27 different genes. Here, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1),...
متن کاملErratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations
Erratum In the original version of this article [1], published on 6 July 2017, the incorrect nomenclature “c.5077_5078insCCAG p.Gly1693Alafs*8” was used for the truncating mutation caused by the four-base pair change. The correct nomenclature for this mutation should be “c.5073_5076dup p. Gly1693Profs*8”, according to the sequence variant nomenclature of Human Genome Variant Society (HGVS: http...
متن کاملPhosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.
The human Usher syndrome (USH) is a complex ciliopathy with at least 12 chromosomal loci assigned to three clinical subtypes, USH1-3. The heterogeneous USH proteins are organized into protein networks. Here, we identified Magi2 (membrane-associated guanylate kinase inverted-2) as a new component of the USH protein interactome, binding to the multifunctional scaffold protein SANS (USH1G). We sho...
متن کاملCongenital Nephrotic Syndrome: A Cases Report
Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...
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: Kidney International
سال: 2019
ISSN: 0085-2538
DOI: 10.1016/j.kint.2019.03.016