Abstract
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.
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Stanescu, V., Maroteaux, P. & Stanescu, R. The biochemical defect of pseudoachondroplasia. Eur J Pediatr 138, 221–225 (1982). https://doi.org/10.1007/BF00441206
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DOI: https://doi.org/10.1007/BF00441206