A Mutation of β-Actin That Alters Depolymerization Dynamics Is Associated with Autosomal Dominant Developmental Malformations, Deafness, and Dystonia

2006/05/10 by Vincent Procaccio, Gloria Salazar, Shoichiro Ono +17 · 2 citations
Biochemistry, Genetics and Molecular Biology · Medicine · Neuroscience · #Biology #Cellular Mechanics and Interactions #Dystonia #Gene #Genetics #Medicine #Muscle Physiology and Disorders #Mutation #Neuroscience #RNA Research and Splicing

paper · pdf · doi:10.1086/504271

openalex publication_date 2006/05/10 · crossref created 2006/05/10 · crossref issued 2006/06/01 · crossref published 2006/06/01 · crossref published-print 2006/06/01 · openalex created_date 2016/06/24 · crossref deposited 2021/07/26 · crossref indexed 2026/05/11 · openalex updated_date 2026/08/04

Citations

• A heterozygous mutation of β-actin associated with neutrophil dysfunction and recurrent infection
• At least six different actins are expressed in a higher mammal: An analysis based on the amino acid sequence of the amino-terminal tryptic peptide
• Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Cited by

• α-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells
• Actin [wikipedia]