Journal article icon

Journal article

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

Abstract:

We have studied a cohort of nemaline myopathy (NM) patients with mutations in the muscle alpha-skeletal actin gene (ACTA1). Immunoblot analysis of patient muscle demonstrates increased gamma-filamin, myotilin, desmin and alpha-actinin in many NM patients, consistent with accumulation of Z line-derived nemaline bodies. We demonstrate that nebulin can appear abnormal secondary to a primary defect in actin, and show by isoelectric focusing that mutant actin isoforms are present within insoluble ...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1093/hmg/ddh185

Authors


Ilkovski, B More by this author
Domazetovska, A More by this author
Maxwell, AL More by this author
Clement, S More by this author
Expand authors...
Journal:
Human molecular genetics
Volume:
13
Issue:
16
Pages:
1727-1743
Publication date:
2004-08-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:98d30517-a9c3-41be-8815-3436af2fc272
Source identifiers:
106731
Local pid:
pubs:106731

Terms of use


Metrics



If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP