Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.Q573*
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BIN1

NM_139343.3:p.Q573*

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

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.

Hohendahl A et al.

Journal of Structural Biology, 2016

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

Next generation sequencing for molecular diagnosis of neuromuscular diseases.

Vasli N et al.

Acta Neuropathologica, 2012

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A et al.

Acta Neuropathologica, 2011

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

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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