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SPTBN2 wt Allele

Known as: SCA5, GTRAP41, Spectrin, Beta, Non-Erythrocytic 2 wt Allele 
Human SPTBN2 wild-type allele is located in the vicinity of 11q13.2 and is approximately 44 kb in length. This allele, which encodes spectrin beta… Expand
National Institutes of Health

Related topics

Related topics

4 relations
Cell MovementCytokinesisMuscle ContractionRegulation of Cell Shape

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations
Although many genes have been identified for the autosomal recessive cerebellar ataxias (ARCAs), several patients are unlinked to… Expand
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Highly Cited
2010
Highly Cited
2010
Targeted deletion of βIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes
The spectrin membrane skeleton controls the disposition of selected membrane channels, receptors, and transporters. In the brain… Expand
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2010
2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
Background At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been… Expand
Highly Cited
2008
Highly Cited
2008
Abnormal expression of glutamate transporter and transporter interacting molecules in prefrontal cortex in elderly patients with schizophrenia
Glutamate cycling is critically important for neurotransmission, and may be altered in schizophrenia. The excitatory amino acid… Expand
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Highly Cited
2006
Highly Cited
2006
Expression of excitatory amino acid transporter interacting protein transcripts in the thalamus in schizophrenia
The excitatory amino acid transporters (EAATs) are a family of plasma membrane proteins that maintain synaptic glutamate… Expand
Highly Cited
2005
Highly Cited
2005
Clinical feature profile of spinocerebellar ataxia type 1–8 predicts genetically defined subtypes
An increasing number of genetically defined types of spinocerebellar ataxia (SCA) have been reported in the past decade… Expand
Review
2004
Review
2004
Spinocerebellar ataxia type 5
The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5… Expand
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Highly Cited
2001
Highly Cited
2001
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
Background: The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. The mutations for… Expand
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Highly Cited
1999
Highly Cited
1999
Clinical and MRI findings in spinocerebellar ataxia type 5
Article abstract Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias… Expand
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Highly Cited
1998
Highly Cited
1998
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia
Objective: To characterize a distinct form of spinocerebellar ataxia (SCA) clinically and genetically. Background: The SCAs are a… Expand
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