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Spectrin, beta, non-erythrocytic 2

SCA5, SPTBN2, beta-III spectrin, GTRAP41, KIAA0302
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] (from NCBI)
Top mentioned proteins: SCA2, CACNA1A, Jos, SCA7, AGE
Papers on SCA5
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Németh et al., Curitiba, Brazil. In Brain, Jul 2015
They were 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.
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
Takiyama et al., Japan. In J Hum Genet, 2014
To date, four families with spinocerebellar ataxia type 5 (SCA5) with four distinct mutations in the spectrin, beta, nonerythrocytic 2 gene (SPTBN2) have been reported worldwide.
Mutant β-III spectrin causes mGluR1α mislocalization and functional deficits in a mouse model of spinocerebellar ataxia type 5.
Ranum et al., Gainesville, United States. In J Neurosci, 2014
Spinocerebellar ataxia type 5 (SCA5), a dominant neurodegenerative disease characterized by profound Purkinje cell loss, is caused by mutations in SPTBN2, a gene that encodes β-III spectrin.
β-III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations.
Jackson et al., Edinburgh, United Kingdom. In Hum Mol Genet, 2014
Spinocerebellar ataxia type 5 (SCA5) and spectrin associated autosomal recessive cerebellar ataxia type 1 are human neurodegenerative diseases involving progressive gait ataxia and cerebellar atrophy.
In vitro antimicrobial, antioxidant and cytotoxic properties of Streptomyces lavendulae strain SCA5.
Ignacimuthu et al., In Bmc Microbiol, 2013
The aim of the present study was to evaluate the antimicrobial, cytotoxic and antioxidant properties of Streptomyces lavendulae strain SCA5.
Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.
Ragoussis et al., Oxford, United Kingdom. In Brain, 2013
Our pathogenicity interpretation pathway predicted 13 different mutations in eight different genes: PRKCG, TTBK2, SETX, SPTBN2, SACS, MRE11, KCNC3 and DARS2 of which nine were novel including one causing a newly described recessive ataxia syndrome.
[The genetics of spinocerebellar ataxias].
Klockgether et al., Bonn, Germany. In Nervenarzt, 2013
In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28.
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.
Wszolek et al., Jacksonville, United States. In Orphanet J Rare Dis, 2012
ADCA Type III consists of six subtypes, SCA5, SCA6, SCA11, SCA26, SCA30, and SCA31.
Differential gene expression profile in PBMCs from subjects with AERD and ATA: a gene marker for AERD.
Park et al., Puch'ŏn, South Korea. In Mol Genet Genomics, 2012
two gene markers (CNKSR3 and SPTBN2) differentiate between aspirin-exacerbated respiratory disease and aspirin-tolerant asthma with a perfect discriminative power
Spinocerebellar ataxia type 5.
Ranum et al., Minneapolis, United States. In Handb Clin Neurol, 2011
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.
Role of inositol 1,4,5-trisphosphate receptors in pathogenesis of Huntington's disease and spinocerebellar ataxias.
Bezprozvanny, Dallas, United States. In Neurochem Res, 2011
Additional data in the literature indicate that abnormal neuronal Ca(2+) signaling may also play an important role in pathogenesis of SCAl, SCA5, SCA6, SCA14 and SCA15/16.
Apparent structural differences at the tetramerization region of erythroid and nonerythroid beta spectrin as discriminated by phage displayed scFvs.
Fung et al., Chicago, United States. In Protein Sci, 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.
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond.
Durr, Paris, France. In Lancet Neurol, 2010
All other SCAs are caused by either conventional mutations or large rearrangements in genes with different functions, including glutamate signalling (SCA5/SPTBN2) and calcium signalling (SCA15/16/ITPR1), channel function (SCA13/KCNC3, SCA14/PRKCG, SCA27/FGF14), tau regulation (SCA11/TTBK2), and mitochondrial activity (SCA28/AFG3L2) or RNA alteration (SCA31/BEAN-TK2).
Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans.
Jackson et al., Edinburgh, United Kingdom. In J Neurosci, 2010
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.
Role of transforming growth factor beta signaling and expansion of progenitor cells in regenerating liver.
Mishra et al., Washington, D.C., United States. In Hepatology, 2010
TGF-beta signaling, particularly beta2SP, plays a critical role in hepatocyte proliferation and transitional phenotype.
Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.
Rouleau et al., Montréal, Canada. In Nat Genet, 2007
9) and SPTBN2 (ref.
Spectrin mutations cause spinocerebellar ataxia type 5.
Ranum et al., Minneapolis, United States. In Nat Genet, 2006
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.
Modulation of the neuronal glutamate transporter EAAT4 by two interacting proteins.
Rothstein et al., Baltimore, United States. In Nature, 2001
Here we report the identification and characterization of two proteins, GTRAP41 and GTRAP48 (for glutamate transporter EAAT4 associated protein) that specifically interact with the intracellular carboxy-terminal domain of EAAT4 and modulate its glutamate transport activity.
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
Livingston et al., Minneapolis, United States. In Nat Genet, 1994
We have mapped this gene, spinocerebellar ataxia type 5 (SCA5), to the centromeric region of chromosome 11.
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