The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of...
The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins
About this item
Full title
Author / Creator
Publisher
England: eLife Sciences Publications Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: eLife Sciences Publications Ltd
Subjects
More information
Scope and Contents
Contents
Various heterozygous cytoskeletal γ-actin mutations have been shown to cause Baraitser-Winter cerebrofrontofacial syndrome, non-syndromic hearing loss, or isolated eye coloboma. Here, we report the biochemical characterization of human cytoskeletal γ-actin carrying mutation E334Q, a mutation that leads to a hitherto unspecified non-muscle actinopat...
Alternative Titles
Full title
The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_321319569cd148a5aa5e8707afca94db
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_321319569cd148a5aa5e8707afca94db
Other Identifiers
ISSN
2050-084X
E-ISSN
2050-084X
DOI
10.7554/eLife.93013
