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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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2014
2014
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
Beta III spectrin is present throughout the elaborate dendritic tree of cerebellar Purkinje cells and is required for normal… 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
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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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2006
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
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2005
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
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Review
2004
Review
2004
Spinocerebellar ataxia type 5: Clinical and molecular genetic features of a German kindred
Abstract—The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar… Expand
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2001
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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1999
1999
Clinical and MRI findings in spinocerebellar ataxia type 5.
Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias, was assigned to… Expand
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1998
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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