Journal article icon

Journal article

Cardiac α-actin over-expression therapy in dominant ACTA1 disease.

Abstract:

More than 200 mutations in the skeletal muscle α-actin gene (ACTA1) cause either dominant or recessive skeletal muscle disease. Currently, there are no specific therapies. Cardiac α-actin is 99% identical to skeletal muscle α-actin and the predominant actin isoform in fetal muscle. We previously showed cardiac α-actin can substitute for skeletal muscle α-actin, preventing the early postnatal death of Acta1 knock-out mice, which model recessive ACTA1 disease. Dominant ACTA1 disease is caused b...

Expand abstract
Publication status:
Published

Actions


Access Document


Publisher copy:
10.1093/hmg/ddt252

Authors


Ravenscroft, G More by this author
McNamara, E More by this author
Griffiths, LM More by this author
Papadimitriou, JM More by this author
Hardeman, EC More by this author
Expand authors...
Journal:
Human molecular genetics
Volume:
22
Issue:
19
Pages:
3987-3997
Publication date:
2013-10-05
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
URN:
uuid:ababc621-0032-4c22-a708-7c353fcbfa11
Source identifiers:
436916
Local pid:
pubs:436916

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