Research Topics
Species | M M JørgensenSummaryAffiliation: Aarhus University Hospital Country: Denmark Publications
| Collaborators |
Detail Information
Publications
Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulumM M Jørgensen
Research Unit for Molecular Medicine, Aarhus University Hospital, Skejby Sygehus, DK 8200 Aarhus N, Denmark
J Biol Chem 275:33861-8. 2000..This indicates that the Grp78 interaction is a rate-limiting step in the maturation of the wild type LDL receptor and that Grp78 may be an important factor in the quality control of newly synthesized LDL receptors...
Protein misfolding and degradation in genetic diseasesP Bross
Research Unit for Molecular Medicine, Faculty of Health Sciences and Aarhus University Hospital, Skejby Sygehus, Arhus, Denmark
Hum Mutat 14:186-98. 1999..The important impact of such systems for variability of the expression of genetic deficiencies is emphasised...
A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective proteinH K Jensen
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Arhus N, Denmark
Atherosclerosis 131:67-72. 1997..The transport-defective W556S mutation and the W23X and W66G mutations seem to account for about 40% of the LDL receptor defects in Danish families with FH...
