Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Protein Amphipathic Helix Insertion: A Mechanism to Induce Membrane Fission.
Zhukovsky MA et al.
Frontiers in Cell and Developmental Biology, 2019
Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.
Hohendahl A et al.
Journal of Structural Biology, 2016
Novel Dominant Mutation in BIN1 Gene Causing Mild Centronuclear Myopathy Revealed by Myalgias and CK Elevation.
Garibaldi M et al.
Journal of Neuromuscular Diseases, 2016
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J et al.
Brain : a Journal of Neurology, 2014
Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.
Smith LL et al.
Human Molecular Genetics, 2014
Amphiphysin 2 (BIN1) in physiology and diseases.
Prokic I et al.
Journal of Molecular Medicine (berlin, Germany), 2014
Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.
Wu T et al.
Plos One, 2014
The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.
Royer B et al.
Embo Reports, 2013
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.
Böhm J et al.
Plos Genetics, 2013
Clinical utility gene card for: Centronuclear and myotubular myopathies.
Biancalana V et al.
European Journal of Human Genetics : Ejhg, 2012
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Cowling BS et al.
Plos Genetics, 2012
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Böhm J et al.
Orphanet Journal of Rare Diseases, 2010
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Structure and dynamics of helix-0 of the N-BAR domain in lipid micelles and bilayers.
Löw C et al.
Biophysical Journal, 2008
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Nicot AS et al.
Nature Genetics, 2007
Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.
Fujise K et al.
The Journal of Biological Chemistry, 0