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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Oct 2015.

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)
Top mentioned proteins: Amphiphysin, Clusterin, apolipoprotein E, Dynamin I, HAD
Papers using Bin1 antibodies
Colocalization of fluorescent markers in confocal microscope images of plant cells.
Chien Kenneth R., In PLoS Biology, 2007
... Human BIN1 (Isotype 8) cDNA was obtained from Origene.
Papers on Bin1
The Alzheimer disease BIN1 locus as a modifier of GBA-associated Parkinson disease.
Orr-Urtreger et al., Tel Aviv-Yafo, Israel. In J Neurol, 02 Sep 2015
In all GBA-associated PD patients (n = 153), the BIN1 rs13403026 minor allele was associated with an older AAO (12.4 ± 5.9 years later, p = 0.0001), compared to patients homozygous for the major allele.
Inverse regulation of bridging integrator 1 and BCR-ABL1 in chronic myeloid leukemia.
Musto et al., Prato, Italy. In Tumour Biol, Aug 2015
Bridging integrator 1 (BIN1) is a key protein involved in RTK intracellular trafficking.
DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy.
Zanoteli et al., São Paulo, Brazil. In Genet Mol Biol, May 2015
The disease is clinically heterogeneous, ranging from severe neonatal hypotonic phenotypes to adult-onset mild muscle weakness, and can have multiple modes of inheritance in association with various genes, including MTM1, DNM2, BIN1 and RYR1.
Alzheimer's disease risk genes and mechanisms of disease pathogenesis.
Goate et al., Saint Louis, United States. In Biol Psychiatry, Feb 2015
More recent advances in understanding of the human genome-technologic advances in methods to analyze millions of polymorphisms in thousands of subjects-have revealed new genes associated with AD risk, including ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-DBR1, INPP5D, MS4A, MEF2C, NME8, PICALM, PTK2B, SLC24H4-RIN3, SORL1, and ZCWPW1.
Tau phosphorylation regulates the interaction between BIN1's SH3 domain and Tau's proline-rich domain.
Lambert et al., Lille, France. In Acta Neuropathol Commun, Dec 2014
We recently reported that the bridging integrator 1 (BIN1) risk gene is linked to Tau pathology.
Eps 15 Homology Domain (EHD)-1 Remodels Transverse Tubules in Skeletal Muscle.
McNally et al., Omaha, United States. In Plos One, Dec 2014
When expressed in C2C12 cells, an ATPase dead-EHD1 was found to interfere with BIN1/amphiphysin 2. We now extended those findings by examining Ehd1-heterozygous mice since these mice survive to maturity in normal Mendelian numbers and provide a ready source of mature muscle.
Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia.
Shaw et al., Los Angeles, United States. In Nat Med, Jun 2014
Bridging integrator 1 (BIN1) is a T-tubule protein associated with calcium channel trafficking that is downregulated in failing hearts.
Amphiphysin 2 (BIN1) in physiology and diseases.
Laporte et al., Illkirch-Graffenstaden, France. In J Mol Med (berl), May 2014
Amphiphysin 2, also named bridging integrator-1 (BIN1) or SH3P9, has been recently implicated in rare and common diseases affecting different tissues and physiological functions.
Genetics of Alzheimer's disease.
Seshadri et al., Boston, United States. In Adv Genet, 2013
These loci are in or near-novel AD genes including BIN1, CR1, CLU, phosphatidylinositol-binding clathrin assembly protein (PICALM), CD33, EPHA1, MS4A4/MS4A6, ABCA7, CD2AP, SORL1, HLA-DRB5/DRB1, PTK2B, SLC24A4-RIN3, INPP5D, MEF2C, NME8, ZCWPW1, CELF1, FERMT2, CASS4, and TRIP4 and each has small effects on risk of AD (relative risks of 1.1-1.3).
Late-Onset Alzheimer's Disease Genes and the Potentially Implicated Pathways.
Kamboh et al., Pittsburgh, United States. In Curr Genet Med Rep, 2013
In addition to APOE, recent large genome-wide association studies have identified variation in over 20 loci that contribute to disease risk: CR1, BIN1, INPP5D, MEF2C, TREM2, CD2AP, HLA-DRB1/HLA-DRB5, EPHA1, NME8, ZCWPW1, CLU, PTK2B, PICALM, SORL1, CELF1, MS4A4/MS4A6E, SLC24A4/RIN3,FERMT2, CD33, ABCA7, CASS4.
Pathogenic mechanisms in centronuclear myopathies.
Gautel et al., London, United Kingdom. In Front Aging Neurosci, 2013
The most common forms of congenital myopathies with central nuclei have been attributed to X-linked recessive mutations in the MTM1 gene encoding myotubularin ("X-linked myotubular myopathy"), autosomal-dominant mutations in the DNM2 gene encoding dynamin-2 and the BIN1 gene encoding amphiphysin-2 (also named bridging integrator-1, BIN1, or SH3P9), and autosomal-recessive mutations in BIN1, the RYR1 gene encoding the skeletal muscle ryanodine receptor, and the TTN gene encoding titin.
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
Alzheimer Disease Genetics Consortium et al., New York City, United States. In Jama, 2013
Several loci previously associated with Alzheimer disease but not reaching significance in genome-wide analyses were replicated in gene-based analyses accounting for linkage disequilibrium between markers and correcting for number of tests performed per gene (CR1, BIN1, EPHA1, CD33; 0.0005 < empirical P < .001).
Bin1 attenuation suppresses experimental colitis by enforcing intestinal barrier function.
Prendergast et al., United States. In Dig Dis Sci, 2012
Bin1 is a genetic modifier of colitis that controls the paracellular pathway of transcellular ion transport regulated by cellular tight junctions.
Epigenetic inactivation of the tumor suppressor BIN1 drives proliferation of SNF5-deficient tumors.
Roberts et al., Boston, United States. In Cell Cycle, 2012
The re-expression of BIN1 specifically compromises the proliferation of SNF5-deficient rhabdoid tumors cell lines.
Genotype patterns at PICALM, CR1, BIN1, CLU, and APOE genes are associated with episodic memory.
National Institute on Aging Late-Onset Alzheimer's Disease Genetics Study et al., New York City, United States. In Neurology, 2012
The SNP genotype pattern at the BIN1 gene is associated with episodic memory.
Characterization of bridging integrator 1 (BIN1) as a potential tumor suppressor and prognostic marker in hepatocellular carcinoma.
Xia et al., Guangzhou, China. In Mol Med, 2011
BIN1 expression is significantly decreased in surgically excised hepatocellular carcinoma patient specimens as well as in HCC cell lines and decreased BIN1 expression correlates with the degree of differentiation of HCC and predicts poor prognosis.
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
Charlet-Berguerand et al., Illkirch-Graffenstaden, France. In Nat Med, 2011
alternative splicing associated with T tubule alterations and muscle weakness in myotonic dystrophy
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.
Schellenberg et al., 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.
Disrupted membrane structure and intracellular Ca²⁺ signaling in adult skeletal muscle with acute knockdown of Bin1.
Ma et al., United States. In Plos One, 2010
Study showing the importance of Bin1 in the maintenance of intact t-tubule structure and ([Ca(2)]i) homeostasis in adult skeletal muscle could provide insight on the potential role of Bin1 in skeletal muscle contractility and pathology of myopathy.
Genome-wide analysis of genetic loci associated with Alzheimer disease.
EADI1 Consortium et al., 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;
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