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Article

Using model proteins to quantify the effects of pathogenic mutations in Ig-like proteins.

The Journal of biological chemistry - 25 Aug 2006

Randles Lucy G, Lappalainen Ilkka, Fowler Susan B, Moore Benjamin, Hamill Stefan J, Clarke Jane

Abstract excerpt

It has proved impossible to purify some proteins implicated in disease in sufficient quantities to allow a biophysical characterization of the effect of pathogenic mutations. To overcome this problem we have analyzed 37 different disease-causing mutations located in the L1 and IL2Rgamma proteins in well characterized related model proteins in which mutations that are identical or equivalent to pathogenic...

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Share to Immunoglobulins
Share to Interleukin Receptor Common gamma Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neural Cell Adhesion Molecule L1

Share to Predictive Value of Tests

Share to Protein Structure, Tertiary

Share to Receptors, Interleukin

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Source

Identifiers

PMID: 16760466
DOI: 10.1074/jbc.M603593200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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