Mutant actins that cause congenital myopathy affect sarcomeric protein expression in patient muscle and produce intranuclear and cytoplasmic aggregates in cultured myoblasts

Míreanna comhchosúla

• Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
  de réir: Ilkovski, B, et al.
  Foilsithe / Cruthaithe: (2004)
• Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression
  de réir: Ravenscroft, G, et al.
  Foilsithe / Cruthaithe: (2011)
• Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
  de réir: Ravenscroft, G, et al.
  Foilsithe / Cruthaithe: (2011)
• Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease
  de réir: Ishiura, Hiroyuki, et al.
  Foilsithe / Cruthaithe: (2019)
• Late-onset cytoplasmic body myopathy resembling myotonic dystrophy.
  de réir: Morris, H, et al.
  Foilsithe / Cruthaithe: (1999)