GoPubMed Proteins lists recent and important papers and reviews for
proteins. Page last changed on 14 Mar 2013.
Bridging integrator 1
Bin1, amphiphysin II, amphiphysin 2
This gene encodes several isoforms of a nucleocytoplasmic adaptor protein, one of which was initially identified as a MYC-interacting protein with features of a tumor suppressor. Isoforms that are expressed in the central nervous system may be involved in synaptic vesicle endocytosis and may interact with dynamin, synaptojanin, endophilin, and clathrin. Isoforms that are expressed in muscle and ubiquitously expressed isoforms localize to the cytoplasm and nucleus and activate a caspase-independent apoptotic process. Studies in mouse suggest that this gene plays an important role in cardiac muscle development. Alternate splicing of the gene results in ten transcript variants encoding different isoforms. Aberrant splice variants expressed in tumor cell lines have also been described. [provided by RefSeq, Sep 2011] (from
NCBI)
Sponsored links
Papers using
Bin1
antibodies
Colocalization of fluorescent markers in confocal microscope images of plant cells.
Supplier
In PLoS Biology, 2007
... Human BIN1 (Isotype 8) cDNA was obtained from Origene.
Papers on
Bin1
Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.
New
London, United Kingdom. In Ann Hum Genet, 31 Mar 2013
Recent genome wide association studies have identified CLU, CR1, ABCA7 BIN1, PICALM and MS4A6A/MS4A6E in addition to the long established APOE, as loci for Alzheimer's disease.
Allele-specific polymerase chain reaction for the detection of Alzheimer's disease-related single nucleotide polymorphisms.
New
In Bmc Med Genet, 19 Mar 2013
Genome-wide association studies have identified several loci as genetic risk factors of AD aside from apolipoprotein E such as bridging integrator (BIN1), clusterin (CLU), ATP-binding cassette sub-family A member 7 (ABCA7), complement receptor 1 (CR1) and phosphatidylinositol binding clathrin assembly protein (PICALM).
Increased expression of BIN1 mediates Alzheimer genetic risk by modulating tau pathology.
New
Lille, France. In Mol Psychiatry, 12 Mar 2013
Genome-wide association studies (GWAS) have identified a region upstream the BIN1 gene as the most important genetic susceptibility locus in Alzheimer's disease (AD) after APOE.
Association of GWAS-linked loci with late-onset Alzheimer's disease in a northern Han Chinese population.
New
Qingdao, China. In Alzheimers Dement, Jan 2013
OBJECTIVE: Five genomewide association studies (GWAS) in white populations have recently identified and confirmed 9 novel Alzheimer's disease (AD) susceptibility loci (CLU, CR1, PICALM, BIN1, ABCA7, MS4A gene cluster, CD2AP, CD33, and EPHA1).
The genetics and neuropathology of Alzheimer's disease.
Review
New
Philadelphia, United States. In Acta Neuropathol, Sep 2012
This work, so far accomplished through single nucleotide polymorphism arrays, has revealed nine new genes implicated in AD risk (ABCA7, BIN1, CD33, CD2AP, CLU, CR1, EPHA1, MS4A4E/MS4A6A, and PICALM).
Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains.
Saint Louis, United States. In Plos One, 2011
Large-scale genome wide association studies (GWAS) for LOAD have identified 10 novel risk genes: ABCA7, BIN1, CD2AP, CD33, CLU, CR1, EPHA1, MS4A6A, MS4A6E, and PICALM.
Defective membrane remodeling in neuromuscular diseases: insights from animal models.
Review
Illkirch-Graffenstaden, France. In Plos Genet, 2011
Mutations in myotubularin, amphiphysin 2 (BIN1), and dynamin 2 lead to different forms of centronuclear myopathy, while mutations in myotubularin-related proteins cause Charcot-Marie-Tooth neuropathies.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Impact
GeneRIF
Illkirch-Graffenstaden, France. In Nat Med, 2011
alternative splicing associated with T tubule alterations and muscle weakness in myotonic dystrophy
Genetics of Alzheimer's disease: new evidences for an old hypothesis?
Review
Lille, France. In Curr Opin Genet Dev, 2011
In addition to APOE, a major recognized genetic determinant of AD, systematic, high-throughput genomic approaches have recently allowed the characterization of four new genetic determinants: CLU, CR1, PICALM and BIN1.
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Impact
Miami, United States. In Nat Genet, 2011
We also replicated previous associations at CR1 (rs6701713; P(M) = 4.6 × 10(-10), P(J) = 5.2 × 10(-11)), CLU (rs1532278; P(M) = 8.3 × 10(-8), P(J) = 1.9 × 10(-8)), BIN1 (rs7561528; P(M) = 4.0 × 10(-14), P(J) = 5.2 × 10(-14)) and PICALM (rs561655; P(M) = 7.0 × 10(-11), P(J) = 1.0 × 10(-10)), but not at EXOC3L2, to late-onset Alzheimer's disease susceptibility.
Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations.
GeneRIF
Lille, France. In Neurobiol Aging, 2011
we confirmed that BIN1 is a genetic determinants of Alzheimer disease.
Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE.
GeneRIF
Seattle, United States. In Plos Genet, 2011
There was evidence of association for recently-reported late-onset Alzheimer's disease risk loci, including BIN1 and CLU and CUGBP2 with APOE.
Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions.
GeneRIF
Jacksonville, United States. In J Alzheimers Dis, 2010
Logistic regression analysis successfully replicates the association of BIN1 (rs744373) with late-onset Alzheimer's disease, with an odds ratio comparable to that previously reported.
MYC, PARP1, and chemoresistance: BIN there, done that?
Review
GeneRIF
New Brunswick, United States. In Sci Signal, 2010
A model has been proposed in which increased abundance of c-MYC indirectly leads to decreased BIN1 expression, in turn leading to increased PARP activity and resistance to DNA-damaging agents.
Genome-wide analysis of genetic loci associated with Alzheimer disease.
Impact
Boston, United States. In Jama, 2010
RESULTS: Two loci were identified to have genome-wide significance for the first time: rs744373 near BIN1 (odds ratio [OR],1.13;
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Review
GeneRIF
Illkirch-Graffenstaden, France. In Orphanet J Rare Dis, 2009
We present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation.
AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling.
Impact
GeneRIF
United States. In Nat Cell Biol, 2009
show a requirement for human BIN1 (also known as Amphiphysin 2) in EHD1-regulated endocytic recycling.
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.
Impact
GeneRIF
Illkirch-Graffenstaden, France. In Nat Genet, 2007
Results suggest that mutations in BIN1 cause centronuclear myopathy by interfering with remodeling of T tubules and/or endocytic membranes, and that the interaction between BIN1 and DNM2 is necessary for normal muscle function and positioning of nuclei.
