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

Samankaltaisia teoksia

• Mutant actins that cause congenital myopathy affect sarcomeric protein expression in patient muscle and produce intranuclear and cytoplasmic aggregates in cultured myoblasts
  Tekijä: Ilkovski, B, et al.
  Julkaistu: (2004)
• Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression
  Tekijä: Ravenscroft, G, et al.
  Julkaistu: (2011)
• Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
  Tekijä: Ravenscroft, G, et al.
  Julkaistu: (2011)
• Cardiac α-actin over-expression therapy in dominant ACTA1 disease.
  Tekijä: Ravenscroft, G, et al.
  Julkaistu: (2013)
• Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8)
  Tekijä: Seferian, AM, et al.
  Julkaistu: (2016)