Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski, Biljana

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. [electronic resource] - Human molecular genetics Aug 2004 - 1727-43 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't

0964-6906

10.1093/hmg/ddh185 doi


Actins--genetics
Biopolymers--genetics
Blotting, Western
Cells, Cultured
DNA Primers
Histological Techniques
Humans
Immunoblotting
Immunohistochemistry
Isoelectric Focusing
Models, Molecular
Muscle Proteins--metabolism
Mutation--genetics
Myoblasts--metabolism
Myopathies, Nemaline--genetics
Protein Folding
Protein Isoforms--genetics
Transfection