Open AccessCD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)
Author(s) -
Maddalena Gigante,
Paola Pontrelli,
Eustacchio Montemurno,
Leonarda Roca,
Filippo Aucella,
R Penza,
Gianluca Caridi,
Elena Ranieri,
Gian Marco Ghiggeri,
Loreto Gesualdo
Publication year - 2009
Publication title -
nephrology dialysis transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.654
H-Index - 168
eISSN - 1460-2385
pISSN - 0931-0509
DOI - 10.1093/ndt/gfn712
Subject(s) - nephrotic syndrome , podocin , focal segmental glomerulosclerosis , medicine , microbiology and biotechnology , propidium iodide , flow cytometry , peripheral blood mononuclear cell , pathology , immunology , podocyte , glomerulonephritis , biology , kidney , proteinuria , biochemistry , apoptosis , programmed cell death , in vitro
CD2-associated protein (CD2AP) is a crucial protein for the slit-diaphragm assembly and function. In spite of the fact that CD2AP knockout causes nephrotic syndrome in mice and the heterozygous +/- mouse is prone to proteinuria, little is known about the relevance of this molecule in human renal pathology.
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