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Akademický článek

Increased Actin Binding Is a Shared Molecular Consequence of Numerous SCA5 Mutations in β-III-Spectrin

Autor: Alexandra E. Atang, Amanda R. Keller, Sarah A. Denha, Adam W. Avery

Publikováno v: Cells, Vol 12, Iss 16, p 2100 (2023)

Spinocerebellar ataxia type 5 (SCA5) is a neurodegenerative disease caused by mutations in the SPTBN2 gene encoding the cytoskeletal protein β-III-spectrin. Previously, we demonstrated that a L253P missense mutation, localizing to the β-III-spectri

Externí odkaz: https://doaj.org/article/5891b7430ca7487faf1e6adcb3306ebe

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Akademický článek

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

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

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America, 2017 Oct . 114(44), E9376-E9385.

Externí odkaz: https://www.jstor.org/stable/26488892

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Akademický článek

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Akademický článek

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The Spread of Spectrin in Ataxia and Neurodegenerative Disease

Autor: Jon S, Morrow, Michael C, Stankewich

Publikováno v: Journal of experimental neurology

Experimental and hereditary defects in the ubiquitous scaffolding proteins of the spectrin gene family cause an array of neuropathologies. Most recognized are ataxias caused by missense, deletions, or truncations in the SPTBN2 gene that encodes beta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::818596acb568856c8d7a508bb74d0ef8
https://pubmed.ncbi.nlm.nih.gov/34528024

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Akademický článek

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

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

Publikováno v: The Journal of Biological Chemistry

Numerous diseases are linked to mutations in the actin-binding domains (ABDs) of conserved cytoskeletal proteins, including β-III-spectrin, α-actinin, filamin, and dystrophin. A β-III-spectrin ABD mutation (L253P) linked to spinocerebellar ataxia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bd13ccfcd6f48ee724d62cab62765b5
https://pubmed.ncbi.nlm.nih.gov/33839680

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Molecular Confirmation of Rickettsia parkeri in Amblyomma ovale Ticks, Veracruz, Mexico

Autor: Christopher D. Paddock, Julio C. Canseco-Méndez, Gerardo G. Ballados-González, Andrés M. López-Pérez, Alejandra Hernández-Velasco, David Delgado-de la Mora, Jesús D. Licona-Enriquez, Pablo Colunga-Salas, Jesús Delgado-de la Mora, Héctor M. Zazueta-Islas, Marlene Solis-Cortés, Sokani Sánchez-Montes, Claudia Rangel-Escareño, Edith A. Fernández-Figueroa, Sandor E. Karpathy, Haydee Miranda-Ortiz

Publikováno v: Emerging Infectious Diseases, Vol 25, Iss 12, Pp 2315-2317 (2019)
Emerging Infectious Diseases

We found Rickettsia parkeri in Amblyomma ovale ticks collected in Veracruz, Mexico, in 2018. We sequenced gene segments of gltA, htrA, sca0, and sca5; phylogenetic reconstruction revealed near-complete identity with R. parkeri strain Atlantic Rainfor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f139cd4048710b4e47a0ec605a9b87e
https://wwwnc.cdc.gov/eid/article/25/12/19-0964_article

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

Autor: Alessandro Brussino, Andrea Zonta, Patrizia Dentelli, Alfredo Brusco

Publikováno v: BMJ Case Reports. 13:e238108

A 4-year-old girl was referred to the geneticist with a history of ataxia associated with intention tremor of the hands, strabismus and hypermetropy. Her symptoms presented about 2 years earlier with inability to walk unaided and lower limbs hypotoni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac7cba494e007727db82c91d294735fd
https://doi.org/10.1136/bcr-2020-238108

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Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia

Autor: Ginevra Zanni, Francesco Nicita, Federica Graziola, Giorgia Piccini, Claudio Pignata, Paolo Alfieri, Marta Nardella, Enrico Bertini, Alessandro Capuano, Emanuele Bellacchio, Gaetano Terrone

Publikováno v: Clinical genetics. 96(2)

Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disord

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4e0cf7bcf73f69d0160a4469bec2c5
https://pubmed.ncbi.nlm.nih.gov/31066025

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