Associated Papers
Coordination of autophagosome closure and release by the Alzheimer's disease-associated protein BIN1.
Palmer JE et al.
Cell Reports, 2025
Uncovering the BIN1-SH3 interactome underpinning centronuclear myopathy.
Zambo B et al.
Elife, 2024
Rare coding mutations identified by sequencing of Alzheimer disease genome-wide association studies loci.
Vardarajan BN et al.
Annals of Neurology, 2015
BIN1/M-Amphiphysin2 induces clustering of phosphoinositides to recruit its downstream partner dynamin.
Picas L et al.
Nature Communications, 2014
N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
Falcone S et al.
Embo Molecular Medicine, 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
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
Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation.
Mejaddam AY et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2009
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
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