Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy

Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-stage renal disease. Monogenic FSGS is primarily ascribed to decreased podocyte integrity. Variants between residues 184 and 245 of INF2, an actin assembly factor, produce the monogenic FSGS phenotype. Meanwhile,...

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Detalles Bibliográficos
Autores principales: Ueda, Hiroko, Tran, Quynh Thuy Huong, Tran, Linh Nguyen Truc, Higasa, Koichiro, Ikeda, Yoshiki, Kondo, Naoyuki, Hashiyada, Masaki, Sato, Chika, Sato, Yoshinori, Ashida, Akira, Nishio, Saori, Iwata, Yasunori, Iida, Hiroyuki, Matsuoka, Daisuke, Hidaka, Yoshihiko, Fukui, Kenji, Itami, Suzu, Kawashita, Norihito, Sugimoto, Keisuke, Nozu, Kandai, Hattori, Motoshi, Tsukaguchi, Hiroyasu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368640/
https://www.ncbi.nlm.nih.gov/pubmed/37491439
http://dx.doi.org/10.1038/s41598-023-38588-7

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