Amyloid and Non-amyloid Forms of 5q31-linked Corneal Dystrophy Resulting from Kerato-epithelin Mutations at Arg-124 Are Associated with Abnormal Turnover of the Protein
Open Access
- 1 April 2000
- journal article
- Published by Elsevier in Journal of Biological Chemistry
- Vol. 275 (15) , 11465-11469
- https://doi.org/10.1074/jbc.275.15.11465
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Varied Appearance of Cornea of Patients with Corneal Dystrophy Associated with R124H Mutation in the B1GH3 GeneCornea, 1999
- Immunolocalization of βig-h3 Protein in 5q31-Linked Corneal Dystrophies and Normal CorneasArchives of Ophthalmology (1950), 1999
- Mutation Hot Spots in 5q31-Linked Corneal DystrophiesAmerican Journal of Human Genetics, 1998
- Characterization of a cartilage-derived 66-kDa protein (RGD-CAP/βig-h3) that binds to collagen1The nucleotide sequence data reported in this paper will appear in the EMBL, GenBank and DDBJ Nucleotide Sequence Databases under the accession number D55717.1Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 1997
- Kerato-epithelin mutations in four 5q31-linked corneal dystrophiesNature Genetics, 1997
- cDNA from human ocular ciliary epithelium homologous to βig‐h3 is preferentially expressed as an extracellular protein in the corneal epitheliumJournal of Cellular Physiology, 1994
- βig-h3: A Transforming Growth Factor-β-Responsive Gene Encoding a Secreted Protein That Inhibits Cell AttachmentIn Vitroand Suppresses the Growth of CHO Cells in Nude MiceDNA and Cell Biology, 1994
- Reference points for comparisons of two‐dimensional maps of proteins from different human cell types defined in a pH scale where isoelectric points correlate with polypeptide compositionsElectrophoresis, 1994
- A Semidry Electroblotting System Efficiently Transfers Both High- and Low-Molecular-Weight Proteins Separated by SDS-PAGEAnalytical Biochemistry, 1993
- cDNA Cloning and Sequence Analysis of βig-h3, a Novel Gene Induced in a Human Adenocarcinoma Cell Line after Treatment with Transforming Growth Factor-βDNA and Cell Biology, 1992