MPS II in females: molecular basis of two different cases

Wild type IDS cDNA and L41P mutant cDNA were transiently expressed in COS cells and normal human skin fibroblasts and stably expressed in Lβ del. 6 The processing of the wild type IDS protein is identical in all these cells. 5 6 After a three hour pulse, COS cells, normal fibroblasts, and Lβ del t...

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Veröffentlicht in:Journal of medical genetics 2000-10, Vol.37 (10), p.e29-29
Hauptverfasser: CUDRY, STÉPHANE, TIGAUD, ISABELLE, FROISSART, ROSELINE, BONNET, VÉRONIQUE, MAIRE, IRÈNE, BOZON, DOMINIQUE
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Sprache:eng
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Zusammenfassung:Wild type IDS cDNA and L41P mutant cDNA were transiently expressed in COS cells and normal human skin fibroblasts and stably expressed in Lβ del. 6 The processing of the wild type IDS protein is identical in all these cells. 5 6 After a three hour pulse, COS cells, normal fibroblasts, and Lβ del transfected with L41P mutant cDNA produced only the 76 kDa precursor, and after a 24 hour chase, no 55 kDa lysosomal mature form was produced in any of the different cell types expressing L41P, while the 76 kDa polypeptide was degraded (fig 2 , table 2 ). [...]they were not involved in the process of X inactivation and probably represent sequencing errors in U50908 and M97168 .
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.37.10.e29