Cardiac -actin over-expression therapy in dominant ACTA1 disease
نویسندگان
چکیده
منابع مشابه
Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
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 de...
متن کاملMissense mutations of ACTA1 cause dominant congenital myopathy with cores.
A M Kaindl, F Rüschendorf, S Krause, H-H Goebel, K Koehler, C Becker, D Pongratz, J MüllerHöcker, P Nürnberg, G Stoltenburg-Didinger, H Lochmüller, A Huebner . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ....
متن کاملMuscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. At that time, only 15 different missense mutations were known in ACTA1. More than 60 mutations have now been identified. This review analyses this larger spectrum of mutations in ACTA1. It in...
متن کاملUwa Research Publication
Mutations in the skeletal muscle α-actin gene (ACTA1) cause a range of congenital myopathies characterised by muscle weakness and specific skeletal muscle structural lesions. Actin accumulations, nemaline and intranuclear bodies, fibre type disproportion, cores, caps, dystrophic features and zebra bodies have all been seen in biopsies from patients with ACTA1 disease, with patients frequently p...
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F or more than 50 years, thrombosis within the circulatory system has been recognized as the principal mechanism responsible for cardiovascular morbidity and mortality, and throughout this period various antithrombotic drugs have been used for purposes of both prevention and therapy. The vast existing literature is so rapidly supplemented by new data that confusion may arise among clinicians wh...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2013
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddt252