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Functional analysis of BMP4 mutations identified in pediatric CAKUT patients
Pediatric Nephrology, 08/20/09

Tabatabaeifar M et al. – Human congenital anomalies of the kidney and urinary tract (CAKUT) represent the major causes of chronic renal failure (CRF) in children. The authors formerly identified three missense mutations (S91C, T116S, N150K) in five pediatric CAKUT patients. They describe the formation of alternative protein complexes induced by the S91C–BMP4 mutation, which results in perinuclear endoplasmic reticulum (ER) accumulation and enhanced lysosomal degradation of Bmp4.

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