CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)

• Published in: Nephrology, dialysis, transplantation Vol. 24; no. 6; pp. 1858 - 1864
• Main Authors: Gigante, Maddalena, Pontrelli, Paola, Montemurno, Eustacchio, Roca, Leonarda, Aucella, Filippo, Penza, Rosa, Caridi, Gianluca, Ranieri, Elena, Ghiggeri, Gian Marco, Gesualdo, Loreto
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.06.2009; Oxford Publishing Limited (England)
• Subjects: Adaptor Proteins, Signal Transducing - deficiency; Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Amino Acid Sequence; Amino Acid Substitution; Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy; Animals; Apoptosis; Base Sequence; Biological and medical sciences; Case-Control Studies; CD2 Antigens - metabolism; CD2AP; Child, Preschool; Cytoskeletal Proteins - deficiency; Cytoskeletal Proteins - genetics; Cytoskeletal Proteins - metabolism; DNA - genetics; Emergency and intensive care: renal failure. Dialysis management; Female; Glomerulonephritis; Glomerulosclerosis, Focal Segmental - genetics; Glomerulosclerosis, Focal Segmental - pathology; Glomerulosclerosis, Focal Segmental - physiopathology; Humans; Intensive care medicine; Male; Medical sciences; Mice; Mice, Knockout; Molecular Sequence Data; Mutation; Mutation, Missense; mutations; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; nephrotic syndrome; Nephrotic Syndrome - genetics; Nephrotic Syndrome - pathology; Nephrotic Syndrome - physiopathology; Sequence Deletion; Sequence Homology, Amino Acid; T-Lymphocytes - pathology; T-Lymphocytes - physiology; Young Adult; nephrotic syndrome; mutations; CD2AP; Glomerulonephritis; Kidney disease; Extrarenal dialysis; Urinary system disease; Hemodialysis; Renal failure; Nephrotic syndrome; Mutation

Background. 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 hum...