The biochemical defect of pseudoachondroplasia


Histochemical, immunohistochemical, electron microscopical and microchemical studies were performed on growth cartilage biopsies in 4 cases of pseudoachondroplasia and in 4 controls. An accumulation of a non collagenous protein material into the rough endoplasmic reticulum of chondrocytes and the missing of a proteoglycan population of the cartilage were detected. The accumulated material was stained with antibodies against the core proteins of proteoglycans. In pseudoachondroplasia, an abnormal synthesized or processed protein core of a proteoglycan population is not properly transfered to the Golgi system.

DOI: 10.1007/BF00441206

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@article{Stanescu1982TheBD, title={The biochemical defect of pseudoachondroplasia}, author={Victor Stanescu and Pierre Maroteaux and Relu Stanescu}, journal={European Journal of Pediatrics}, year={1982}, volume={138}, pages={221-225} }