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
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