PMID: 8611652Apr 12, 1996Paper

Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group

Biochimica Et Biophysica Acta
A M MotleyR J A Wanders

Abstract

Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that peroxisomal thiolase fails to be imported into peroxisomes in cells from non-rhizomelic CDP patients, as has already been found in cells from classical RCDP patients. Furthermore, complementation analysis after somatic cell fusion indicates that the non-rhizomelic CDP patients are impaired in the same gene as classical RCDP patients. We conclude that defects in a single gene can give rise to both clinical phenotypes.

References

May 1, 1994·The Journal of Cell Biology·A MotleyH Tabak

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Citations

Nov 28, 2015·Biochimica Et Biophysica Acta·Hans R WaterhamRonald J A Wanders
Jun 5, 2012·Biochimica Et Biophysica Acta·Tiago Ferreira da SilvaPedro Brites
Jun 27, 1997·American Journal of Medical Genetics·K M BakerR M Pauli
Mar 27, 2020·The Journal of Cell Biology·Fred D MastJohn D Aitchison

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