Monoclonal antibodies specific for disease-associated point-mutants: lamin A/C R453W and R482W.

ABSTRACT:

Background

Disease-linked missense mutations can alter a protein's function with fatal consequences for the affected individual. How a single amino acid substitution in a protein affects its properties, is difficult to study in the context of the cellular proteome, because mutant proteins can often not be traced in cells due to the lack of mutation-specific detection tools. Antibodies, however, with their exquisite epitope specificity permit the detection of single amino acid substitutions but are not available for the vast majority of disease-causing mutant proteins. One of the most frequently missense-mutated human genes is the LMNA gene coding for A-type lamins. Mutations in LMNA cause phenotypically heterogenous, mostly autosomal-dominant inherited diseases, termed laminopathie

SUBMITTER: Roblek M 

PROVIDER: S-EPMC2869350 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature