A mutation in the insulin receptor that impairs proreceptor processing but not insulin binding

Here we report the identification of a new mutation in the alpha-chain of the insulin receptor, changing Trp412 into Ser using DNA from consanguineous parents who gave birth to a child with leprechaunism. The mutant receptor was expressed stably in CHO and transiently in COS-1 cells. It was found th...

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Veröffentlicht in:	The Journal of biological chemistry 1994-05, Vol.269 (19), p.14297-14302
Hauptverfasser:	VAN DER VORM, E. R, KUIPERS, A, KIELKOPF-RENNER, S, KRANS, H. M. J, MÖLLER, W, MAASSEN, J. A
Format:	Artikel
Sprache:	eng
Schlagworte:	activity Animals Base Sequence binding Biological and medical sciences Blotting, Western Cell receptors Cell structures and functions Cells, Cultured CHO Cells Cricetinae expression Female Fibroblasts - metabolism Fundamental and applied biological sciences. Psychology Glycosylation Hormone receptors. Growth factor receptors. Cytokine receptors. Prostaglandin receptors Humans Infant, Newborn insulin Insulin - metabolism Insulin Resistance - genetics man Methionine Molecular and cellular biology Molecular Sequence Data Mutation processing Protein Precursors - genetics Protein Precursors - metabolism Protein Processing, Post-Translational - genetics Receptor, Insulin - genetics Receptor, Insulin - metabolism receptors
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