title: Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes.
abstract: BACKGROUND
  Nemaline myopathy is a neuromuscular disorder characterized by the presence of nemaline bodies in patient muscles. 20% of the cases are associated with alpha-skeletal muscle actin mutations. We previously showed that actin mutations can cause four different biochemical phenotypes and that expression of NM associated actin mutants in fibroblasts, myoblasts and myotubes induces a range of cellular defects.
  
  
  RESULTS
  We conducted the same biochemical experiments for twelve new actin mutants associated with nemaline myopathy. We observed folding and polymerization defects. Immunostainings of these and eight other mutants in transfected cells revealed typical cellular defects such as nemaline rods or aggregates, decreased incorporation in F-actin structures, membrane blebbing, the formation of thickened actin fibres and cell membrane blebbing in myotubes.
  
  
  CONCLUSIONS
  Our results confirm that NM associated alpha-actin mutations induce a range of defects at the biochemical level as well as in cultured fibroblasts and muscle cells.
authors.affiliation: Department of Biochemistry, Faculty of Medicine and Health Sciences, Ghent University, A, Baertsoenkaai 3, Gent, Belgium. drieke.vandamme@ugent.be
authors.forename: Drieke
authors.initials: D
authors.lastname: Vandamme
authors.forename: Ellen
authors.initials: E
authors.lastname: Lambert
authors.forename: Davy
authors.initials: D
authors.lastname: Waterschoot
authors.forename: Davina
authors.initials: D
authors.lastname: Tondeleir
authors.forename: Joël
authors.initials: J
authors.lastname: Vandekerckhove
authors.forename: Laura M
authors.initials: LM
authors.lastname: Machesky
authors.forename: Bruno
authors.initials: B
authors.lastname: Constantin
authors.forename: Heidi
authors.initials: H
authors.lastname: Rommelaere
authors.forename: Christophe
authors.initials: C
authors.lastname: Ampe