SPTBN2 Antibody

1. the proposed methodology is validated against betaII-spectrin protein, a brain injury validated biomarker PMID: 28112201
2. SCA5 missense mutation found in the spinocerebellar ataxia type 5 perturbs a closed-open structural equilibrium in the SCA5-actin-binding domain by lowering the energetic barrier between structural states. PMID: 29116080
3. Cardiac beta2-spectrin and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis. PMID: 27106045
4. This study indicates that high-affinity actin binding of L253P beta-III-spectrin is a likely driver of neurodegeneration. PMID: 26883385
5. beta2-Spectrin, a TGF-beta mediator and signaling molecule, is cleaved and activated by caspase-3/7, consequently enhancing apoptosis and transcriptional control to determine cell fate upon liver damage. PMID: 26884715
6. TGF-beta/beta2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. PMID: 26784546
7. investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2 PMID: 25981959
8. First Japanese spinocerebellar ataxia type 5 (SCA5) family with a novel heterozygous three-nucleotide in-frame deletion mutation in the SPTBN2 gene. PMID: 25142508
9. A homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. PMID: 23838597
10. Mutant beta-III spectrin causes mislocalization and dysfunction of mGluR1alpha at dendritic spines. PMID: 25057192
11. A novel missense mutation within a SPTBN2 spectrin repeat encoded by exon 12 was found in a family with spinocerebellar ataxia type 5. PMID: 22843192
12. the identification of SPARCA1 and normal heterozygous carriers of the stop codon in SPTBN2 provides insights into the mechanism of molecular dominance in SCA5 and demonstrates that the cell-specific repertoire of spectrin subunits PMID: 23236289
13. betaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex PMID: 23233669
14. two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power PMID: 22457146
15. This review summarizes data showing that beta-III spectrin mutations are a novel cause of neurodegenerative disease, which may affect the stabilization or trafficking of membrane proteins. PMID: 21827906
16. TGF-beta signaling, particularly beta2SP, plays a critical role in hepatocyte proliferation and transitional phenotype. PMID: 20131405
17. A mouse model lacking full-length beta-III spectrin reproduces features of human spinocerebellar ataxia type 5 including gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy. PMID: 20371805
18. beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. PMID: 16429157
19. None of the Spinocerebellar Ataxia individuals tested had evidence for one of the known SCA5 mutations. PMID: 17940722
20. Adducin acting through spectrin provides a novel mechanism to regulate global properties of the lateral membrane of bronchial epithelial cells. PMID: 18003973
21. the crystal structure of the ankyrin-binding domain of human beta2-spectrin at 1.95 A resolution together with mutagenesis data identifying the binding surface for ankyrins on beta2-spectrin. PMID: 19098307

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HGNC: 11276

OMIM: 600224

KEGG: hsa:6712

STRING: 9606.ENSP00000311489

UniGene: Hs.26915