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

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Article

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

The Journal of biological chemistry - 13 May 1994

van der Vorm E R, Kuipers A, Kielkopf-Renner S, Krans H M, Möller W, Maassen J A

Abstract excerpt

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...

Topics

Animals
Base Sequence
Blotting, Western
CHO Cells
Cells, Cultured
Cricetinae
Female
Fibroblasts
Glycosylation
Humans
Infant, Newborn
Insulin
Insulin Resistance
Methionine
Molecular Sequence Data
Mutation
Protein Precursors
Protein Processing, Post-Translational

Source

Open in PubMed

Identifiers

PMID: 8188715

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8188715-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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