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Select item 86423731.

Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5

Xianli Bian, Shang Wang, Suqin Jin, Shunliang Xu, Hong Zhang, Dewei Wang, Wei Shang, Ping Wang

Neurol Sci. 2021; 42(12): 5195–5203. Published online 2021 Apr 2. doi: 10.1007/s10072-021-05204-3

PMCID:: PMC8642373

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Select item 80458992.

Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

Romina Romaniello, Andrea Citterio, Elena Panzeri, Filippo Arrigoni, Marta De Rinaldis, Antonio Trabacca, Maria Teresa Bassi

Ann Clin Transl Neurol. 2021 Apr; 8(4): 956–963. Published online 2021 Mar 23. doi: 10.1002/acn3.51345

PMCID:: PMC8045899

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Select item 69784263.

Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Gillian Rea, Sandya Tirupathi, Jonathan Williams, Penny Clouston, Patrick J. Morrison

Cerebellum. 2020; 19(1): 161–163. Published online 2019 Nov 12. doi: 10.1007/s12311-019-01085-7

PMCID:: PMC6978426

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Select item 56768934.

β-III-spectrin spinocerebellar ataxia type 5 mutation reveals a dominant cytoskeletal mechanism that underlies dendritic arborization

Adam W. Avery, David D. Thomas, Thomas S. Hays

Proc Natl Acad Sci U S A. 2017 Oct 31; 114(44): E9376–E9385. Published online 2017 Oct 16. doi: 10.1073/pnas.1707108114

PMCID:: PMC5676893

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Select item 47563695.

A human β-III-spectrin spinocerebellar ataxia type 5 mutation causes high-affinity F-actin binding

Adam W. Avery, Jonathan Crain, David D. Thomas, Thomas S. Hays

Sci Rep. 2016; 6: 21375. Published online 2016 Feb 17. doi: 10.1038/srep21375

PMCID:: PMC4756369

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Select item 35741926.

A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation Within a SPTBN2 Spectrin Repeat

Ellen Cho, Brent L. Fogel

Cerebellum. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Cerebellum. 2013 Apr; 12(2): 162–164. doi: 10.1007/s12311-012-0408-0

PMCID:: PMC3574192

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Select item 28575067.

Loss of β-III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

Emma M. Perkins, Yvonne L. Clarkson, Nancy Sabatier, David M. Longhurst, Christopher P. Millward, Jennifer Jack, Junko Toraiwa, Mitsunori Watanabe, Jeffrey D. Rothstein, Alastair R. Lyndon, David J. A. Wyllie, Mayank B. Dutia, Mandy Jackson

J Neurosci. 2010 Apr 7; 30(14): 4857–4867. doi: 10.1523/JNEUROSCI.6065-09.2010

PMCID:: PMC2857506

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Select item 28543828.

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila

Damaris N. Lorenzo, Min-gang Li, Sarah E. Mische, Karen R. Armbrust, Laura P. W. Ranum, Thomas S. Hays

J Cell Biol. 2010 Apr 5; 189(1): 143–158. doi: 10.1083/jcb.200905158

PMCID:: PMC2854382

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Select item 99780349.

Early-phase drug discovery of β-III-spectrin actin-binding modulators for treatment of spinocerebellar ataxia type 5

Piyali Guhathakurta, Robyn T. Rebbeck, Sarah A. Denha, Amanda R. Keller, Anna L. Carter, Alexandra E. Atang, Bengt Svensson, David D. Thomas, Thomas S. Hays, Adam W. Avery

J Biol Chem. 2023 Mar; 299(3): 102956. Published online 2023 Jan 31. doi: 10.1016/j.jbc.2023.102956

PMCID:: PMC9978034

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Select item 881093410.

β-III-spectrin N-terminus is required for high-affinity actin binding and SCA5 neurotoxicity

Sarah A. Denha, Alexandra E. Atang, Thomas S. Hays, Adam W. Avery

Sci Rep. 2022; 12: 1726. Published online 2022 Feb 2. doi: 10.1038/s41598-022-05762-2

PMCID:: PMC8810934

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Select item 773702611.

A novel case of congenital spinocerebellar ataxia 5: further support for a specific phenotype associated with the p.(Arg480Trp) variant in SPTBN2

Andrea Zonta, Alessandro Brussino, Patrizia Dentelli, Alfredo Brusco

BMJ Case Rep. 2020; 13(12): e238108. Published online 2020 Dec 13. doi: 10.1136/bcr-2020-238108

PMCID:: PMC7737026

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Select item 567674812.

Structural basis for high-affinity actin binding revealed by a β-III-spectrin SCA5 missense mutation

Adam W. Avery, Michael E. Fealey, Fengbin Wang, Albina Orlova, Andrew R. Thompson, David D. Thomas, Thomas S. Hays, Edward H. Egelman

Nat Commun. 2017; 8: 1350. Published online 2017 Nov 7. doi: 10.1038/s41467-017-01367-w

PMCID:: PMC5676748

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Select item 426532913.

In vitro antimicrobial, antioxidant and cytotoxic properties of Streptomyces lavendulae strain SCA5

Pachaiyappan Saravana Kumar, Naif Abdullah Al-Dhabi, Veeramuthu Duraipandiyan, Chandrasekar Balachandran, Panthagani Praveen Kumar, Savarimuthu Ignacimuthu

BMC Microbiol. 2014; 14: 291. Published online 2014 Nov 30. doi: 10.1186/s12866-014-0291-6

PMCID:: PMC4265329

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Select item 406515914.

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

Yvonne L. Clarkson, Emma M. Perkins, Callum J. Cairncross, Alastair R. Lyndon, Paul A. Skehel, Mandy Jackson

Hum Mol Genet. 2014 Jul 15; 23(14): 3875–3882. Published online 2014 Mar 6. doi: 10.1093/hmg/ddu103

PMCID:: PMC4065159

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Select item 389565015.

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Solaf M Elsayed, Raoul Heller, Michaela Thoenes, Maha S Zaki, Daniel Swan, Ezzat Elsobky, Christine Zühlke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanno J Bolz

Eur J Hum Genet. 2014 Feb; 22(2): 286–288. Published online 2013 Jul 10. doi: 10.1038/ejhg.2013.150

PMCID:: PMC3895650

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Select item 795885716.

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration

Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa

Int J Mol Sci. 2021 Mar; 22(5): 2505. Published online 2021 Mar 2. doi: 10.3390/ijms22052505

PMCID:: PMC7958857

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Select item 794845517.

Novel drug discovery platform for spinocerebellar ataxia, using fluorescence technology targeting β-III-spectrin

Robyn T. Rebbeck, Anna K. Andrick, Sarah A. Denha, Bengt Svensson, Piyali Guhathakurta, David D. Thomas, Thomas S. Hays, Adam W. Avery

J Biol Chem. 2021 Jan-Jun; 296: 100215. Published online 2020 Dec 24. doi: 10.1074/jbc.RA120.015417

PMCID:: PMC7948455

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Select item 351655318.

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

Stefano Lise, Yvonne Clarkson, Emma Perkins, Alexandra Kwasniewska, Elham Sadighi Akha, Ricardo Parolin Schnekenberg, Daumante Suminaite, Jilly Hope, Ian Baker, Lorna Gregory, Angie Green, Chris Allan, Sarah Lamble, Sandeep Jayawant, Gerardine Quaghebeur, M. Zameel Cader, Sarah Hughes, Richard J. E. Armstrong, Alexander Kanapin, Andrew Rimmer, Gerton Lunter, Iain Mathieson, Jean-Baptiste Cazier, David Buck, Jenny C. Taylor, David Bentley, Gilean McVean, Peter Donnelly, Samantha J. L. Knight, Mandy Jackson, Jiannis Ragoussis, Andrea H. Németh

PLoS Genet. 2012 Dec; 8(12): e1003074. Published online 2012 Dec 6. doi: 10.1371/journal.pgen.1003074

PMCID:: PMC3516553

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Select item 343133719.

Combining Comparative Proteomics and Molecular Genetics Uncovers Regulators of Synaptic and Axonal Stability and Degeneration In Vivo

Thomas M. Wishart, Timothy M. Rooney, Douglas J. Lamont, Ann K. Wright, A. Jennifer Morton, Mandy Jackson, Marc R. Freeman, Thomas H. Gillingwater

PLoS Genet. 2012 Aug; 8(8): e1002936. Published online 2012 Aug 30. doi: 10.1371/journal.pgen.1002936

PMCID:: PMC3431337

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Select item 337492820.

β-III Spectrin Is Critical for Development of Purkinje Cell Dendritic Tree and Spine Morphogenesis

Yuanzheng Gao, Emma M. Perkins, Yvonne L. Clarkson, Steven Tobia, Alastair R. Lyndon, Mandy Jackson, Jeffrey D. Rothstein

J Neurosci. 2011 Nov 16; 31(46): 16581–16590. doi: 10.1523/JNEUROSCI.3332-11.2011

PMCID:: PMC3374928

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