| SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization. | SPTBN2 suppresses ferroptosis in NSCLC cells by facilitating SLC7A11 membrane trafficking and localization.
Deng J, Lin X, Qin J, Li Q, Zhang Y, Zhang Q, Ji C, Shen S, Li Y, Zhang B, Lin N., Free PMC Article | 02/27/2024 |
| SPTBN2 regulated by miR-214-3p inhibits the proliferation and migration of colorectal cancer cells. | SPTBN2 regulated by miR-214-3p inhibits the proliferation and migration of colorectal cancer cells.
Chen C, Zhang Q, Wang B, Song Y, Feng Z, Ren S. | 02/1/2024 |
| Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in beta-III-Spectrin. | Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.
Atang AE, Keller AR, Denha SA, Avery AW., Free PMC Article | 08/28/2023 |
| SPTBN2 Promotes the Progression of Thyroid Cancer by Accelerating G1/S Transition and Inhibiting Apoptosis. | SPTBN2 Promotes the Progression of Thyroid Cancer by Accelerating G1/S Transition and Inhibiting Apoptosis.
Zhou X, Lin L, Qi Y, Xu M, Xu Q, Wang Y, Qu J., Free PMC Article | 09/10/2022 |
| Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5. | Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
Bian X, Wang S, Jin S, Xu S, Zhang H, Wang D, Shang W, Wang P., Free PMC Article | 12/11/2021 |
| Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration. | Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Sancho P, Andrés-Bordería A, Gorría-Redondo N, Llano K, Martínez-Rubio D, Yoldi-Petri ME, Blumkin L, Rodríguez de la Fuente P, Gil-Ortiz F, Fernández-Murga L, Sánchez-Monteagudo A, Lupo V, Pérez-Dueñas B, Espinós C, Aguilera-Albesa S., Free PMC Article | 05/15/2021 |
| Study revealed that betaIII spectrin was weakly stained or lost in most poorly differentiated hepatocellular carcinoma (HCC) cases but retained moderate to strong stain in most cholangiocarcinoma (CC) cases. These findings suggest, for the first time, that betaIII spectrins could be helpful in differentiating poorly differentiated HCC from CC. | Utilization of spectrins βI and βIII in diagnosis of hepatocellular carcinoma.
Hu S, Jue D, Albanese J, Wang Y, Liu Q. | 11/2/2019 |
| Study reviews the previously reported SPTBN2 mutations and cases. Moreover, the novel homozygous missense variant (c.1572C>T; p.R414C) in two brothers adds up to the literature for the infantile-onset form of autosomal recessive ataxia associated with SPTBN2. | A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.
Al-Muhaizea MA, AlMutairi F, Almass R, AlHarthi S, Aldosary MS, Alsagob M, AlOdaib A, Colak D, Kaya N. | 07/27/2019 |
| High SPTBN2 expression is associated with malignant peripheral nerve sheath tumors. | β-III-spectrin immunohistochemistry as a potential diagnostic tool with high sensitivity for malignant peripheral nerve sheath tumors.
Hirbe AC, Zhang X, Dahiya S, Godec A, Chrisinger J, Tao Y, Luo J, Gutmann DH., Free PMC Article | 01/19/2019 |
| the proposed methodology is validated against betaII-spectrin protein, a brain injury validated biomarker | Novel Bioinformatics-Based Approach for Proteomic Biomarkers Prediction of Calpain-2 &Caspase-3 Protease Fragmentation: Application to βII-Spectrin Protein.
El-Assaad A, Dawy Z, Nemer G, Kobeissy F., Free PMC Article | 10/20/2018 |
| 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. | Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation.
Avery AW, Fealey ME, Wang F, Orlova A, Thompson AR, Thomas DD, Hays TS, Egelman EH., Free PMC Article | 09/22/2018 |
| Cardiac beta2-spectrin and downstream molecules are regulated in multiple forms of cardiovascular disease via Ca(2+)- and calpain-dependent proteolysis. | Dysfunction of the β2-spectrin-based pathway in human heart failure.
Smith SA, Hughes LD, Kline CF, Kempton AN, Dorn LE, Curran J, Makara M, Webb TR, Wright P, Voigt N, Binkley PF, Janssen PM, Kilic A, Carnes CA, Dobrev D, Rasband MN, Hund TJ, Mohler PJ., Free PMC Article | 07/1/2017 |
| This study indicates that high-affinity actin binding of L253P beta-III-spectrin is a likely driver of neurodegeneration. | A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding.
Avery AW, Crain J, Thomas DD, Hays TS., Free PMC Article | 12/31/2016 |
| 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. | Caspase-3/7-mediated Cleavage of β2-spectrin is Required for Acetaminophen-induced Liver Damage.
Baek HJ, Lee YM, Kim TH, Kim JY, Park EJ, Iwabuchi K, Mishra L, Kim SS., Free PMC Article | 12/17/2016 |
| TGF-beta/beta2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome. | TGF-β/β2-spectrin/CTCF-regulated tumor suppression in human stem cell disorder Beckwith-Wiedemann syndrome.
Chen J, Yao ZX, Chen JS, Gi YJ, Muñoz NM, Kundra S, Herlong HF, Jeong YS, Goltsov A, Ohshiro K, Mistry NA, Zhang J, Su X, Choufani S, Mitra A, Li S, Mishra B, White J, Rashid A, Wang AY, Javle M, Davila M, Michaely P, Weksberg R, Hofstetter WL, Finegold MJ, Shay JW, Machida K, Tsukamoto H, Mishra L., Free PMC Article | 07/16/2016 |
| 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 | De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Németh AH., Free PMC Article | 09/12/2015 |
| First Japanese spinocerebellar ataxia type 5 (SCA5) family with a novel heterozygous three-nucleotide in-frame deletion mutation in the SPTBN2 gene. | A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
Wang Y, Koh K, Miwa M, Yamashiro N, Shindo K, Takiyama Y. | 07/4/2015 |
| A homozygous SPTBN2 nonsense mutation underlying infantile ataxia and psychomotor delay in a human family. | Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Elsayed SM, Heller R, Thoenes M, Zaki MS, Swan D, Elsobky E, Zühlke C, Ebermann I, Nürnberg G, Nürnberg P, Bolz HJ., Free PMC Article | 01/24/2015 |
| Mutant beta-III spectrin causes mislocalization and dysfunction of mGluR1alpha at dendritic spines. | Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.
Armbrust KR, Wang X, Hathorn TJ, Cramer SW, Chen G, Zu T, Kangas T, Zink AN, Öz G, Ebner TJ, Ranum LP., Free PMC Article | 09/27/2014 |
| A novel missense mutation within a SPTBN2 spectrin repeat encoded by exon 12 was found in a family with spinocerebellar ataxia type 5. | A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.
Cho E, Fogel BL., Free PMC Article | 11/2/2013 |
| 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 | Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
Lise S, Clarkson Y, Perkins E, Kwasniewska A, Sadighi Akha E, Schnekenberg RP, Suminaite D, Hope J, Baker I, Gregory L, Green A, Allan C, Lamble S, Jayawant S, Quaghebeur G, Cader MZ, Hughes S, Armstrong RJ, Kanapin A, Rimmer A, Lunter G, Mathieson I, Cazier JB, Buck D, Taylor JC, Bentley D, McVean G, Donnelly P, Knight SJ, Jackson M, Ragoussis J, Németh AH., Free PMC Article | 05/11/2013 |
| betaIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex | βIII spectrin regulates the structural integrity and the secretory protein transport of the Golgi complex.
Salcedo-Sicilia L, Granell S, Jovic M, Sicart A, Mato E, Johannes L, Balla T, Egea G., Free PMC Article | 04/6/2013 |
| two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power | Differential gene expression profile in PBMCs from subjects with AERD and ATA: a gene marker for AERD.
Shin S, Park JS, Kim YJ, Oh T, An S, Park CS. | 06/16/2012 |
| 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. | Spinocerebellar ataxia type 5.
Dick KA, Ikeda Y, Day JW, Ranum LP. | 12/10/2011 |
| Results suggest that it is possible for cellular proteins to differentially associate with the C-termini of different beta-spectrin isoforms to regulate alpha- and beta-spectrin association to form functional spectrin tetramers. | Apparent structural differences at the tetramerization region of erythroid and nonerythroid beta spectrin as discriminated by phage displayed scFvs.
Song Y, Antoniou C, Memic A, Kay BK, Fung LW., Free PMC Article | 08/6/2011 |