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Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes

Drieke Vandamme UGent, Ellen Lambert UGent, Davy Waterschoot UGent, Davina Tondeleir UGent, Laura M Machesky, Joël Vandekerckhove UGent, Bruno Constantin, Heidi Rommelaere and Christophe Ampe UGent (2009) BMC RESEARCH NOTES. 2.
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 α-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. Findings: 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. Conclusion: Our results confirm that NM associated α-actin mutations induce a range of defects at the biochemical level as well as in cultured fibroblasts and muscle cells.
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author
organization
alternative title
Phenotypes induced by NM causing alpha-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes
year
type
journalArticle (original)
publication status
published
subject
journal title
BMC RESEARCH NOTES
BMC Res. Notes
volume
2
article_number
40
pages
12 pages
ISSN
1756-0500
DOI
10.1186/1756-0500-2-40
language
English
UGent publication?
yes
classification
A2
copyright statement
I have retained and own the full copyright for this publication
id
726051
handle
http://hdl.handle.net/1854/LU-726051
date created
2009-08-12 13:18:57
date last changed
2012-04-05 15:35:23
@article{726051,
  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 \ensuremath{\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. Findings: 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. Conclusion: Our results confirm that NM associated \ensuremath{\alpha}-actin mutations induce a range of defects at the biochemical level as well as in cultured fibroblasts and muscle cells.},
  articleno    = {40},
  author       = {Vandamme, Drieke and Lambert, Ellen and Waterschoot, Davy and Tondeleir, Davina and Machesky, Laura M and Vandekerckhove, Jo{\"e}l and Constantin, Bruno and Rommelaere, Heidi and Ampe, Christophe},
  issn         = {1756-0500},
  journal      = {BMC RESEARCH NOTES},
  language     = {eng},
  pages        = {12},
  title        = {Phenotypes induced by NM causing \ensuremath{\alpha}-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes},
  url          = {http://dx.doi.org/10.1186/1756-0500-2-40},
  volume       = {2},
  year         = {2009},
}

Chicago
Vandamme, Drieke, Ellen Lambert, Davy Waterschoot, Davina Tondeleir, Laura M Machesky, Joël Vandekerckhove, Bruno Constantin, Heidi Rommelaere, and Christophe Ampe. 2009. “Phenotypes Induced by NM Causing Α-skeletal Muscle Actin Mutants in Fibroblasts, Sol 8 Myoblasts and Myotubes.” Bmc Research Notes 2.
APA
Vandamme, D., Lambert, E., Waterschoot, D., Tondeleir, D., Machesky, L. M., Vandekerckhove, J., Constantin, B., et al. (2009). Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes. BMC RESEARCH NOTES, 2.
Vancouver
1.
Vandamme D, Lambert E, Waterschoot D, Tondeleir D, Machesky LM, Vandekerckhove J, et al. Phenotypes induced by NM causing α-skeletal muscle actin mutants in fibroblasts, Sol 8 myoblasts and myotubes. BMC RESEARCH NOTES. 2009;2.
MLA
Vandamme, Drieke, Ellen Lambert, Davy Waterschoot, et al. “Phenotypes Induced by NM Causing Α-skeletal Muscle Actin Mutants in Fibroblasts, Sol 8 Myoblasts and Myotubes.” BMC RESEARCH NOTES 2 (2009): n. pag. Print.