Associated Papers
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.
Denha SA et al.
The Journal of Biological Chemistry, 2025
Molecular consequences of SCA5 mutations in the spectrin-repeat domains of β-III-spectrin.
Denha SA et al.
Biorxiv : the Preprint Server for Biology, 2024
Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin.
Atang AE et al.
Cells, 2023
Competition between myosin II and βH-spectrin regulates cytoskeletal tension.
Ibar C et al.
Elife, 2023
Increased actin binding is a shared molecular consequence of numerous spinocerebellar ataxia mutations in β-III-spectrin.
Atang AE et al.
Biorxiv : the Preprint Server for Biology, 2023
Early-phase drug discovery of β-III-spectrin actin-binding modulators for treatment of spinocerebellar ataxia type 5.
Guhathakurta P et al.
The Journal of Biological Chemistry, 2023
β-III-spectrin N-terminus is required for high-affinity actin binding and SCA5 neurotoxicity.
Denha SA et al.
Scientific Reports, 2022
Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5.
Bian X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Spinocerebellar ataxias (SCAs) caused by common mutations.
Müller U
Neurogenetics, 2021
Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
Sancho P et al.
International Journal of Molecular Sciences, 2021
Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.
Accogli A et al.
Journal of Child Neurology, 2020
Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.
Rea G et al.
Cerebellum (london, England), 2020
Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System.
Malik AR et al.
International Journal of Molecular Sciences, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.
Aitken S et al.
American Journal of Human Genetics, 2019
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia.
Nicita F et al.
Clinical Genetics, 2019
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D et al.
Neurology, 2018
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 et al.
Cerebellum (london, England), 2018
Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation.
Avery AW et al.
Nature Communications, 2017
β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization.
Avery AW et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.
Yıldız Bölükbaşı E et al.
American Journal of Medical Genetics. Part A, 2017
Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways.
Perkins E et al.
The Journal of Physiology, 2016
A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding.
Avery AW et al.
Scientific Reports, 2016
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study.
Wang Y et al.
Journal of Human Genetics, 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.
Clarkson YL et al.
Human Molecular Genetics, 2014
Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations.
Elsayed SM et al.
European Journal of Human Genetics : Ejhg, 2014
Case of infantile onset spinocerebellar ataxia type 5.
Jacob FD et al.
Journal of Child Neurology, 2013
A family with spinocerebellar ataxia type 5 found to have a novel missense mutation within a SPTBN2 spectrin repeat.
Cho E et al.
Cerebellum (london, England), 2013
Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.
Fujioka S et al.
Orphanet Journal of Rare Diseases, 2013
Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation.
Forman OP et al.
Bmc Genetics, 2012
Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.
Lise S et al.
Plos Genetics, 2012
Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi.
Clarkson YL et al.
Human Molecular Genetics, 2010
Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila.
Lorenzo DN et al.
The Journal of Cell Biology, 2010
Screening of the SPTBN2 (SCA5) gene in German SCA patients.
Zühlke C et al.
Journal of Neurology, 2007
Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y et al.
Nature Genetics, 2006
Novel drug discovery platform for spinocerebellar ataxia, using fluorescence technology targeting β-III-spectrin.
Rebbeck RT et al.
The Journal of Biological Chemistry, 0