CCG•CGG interruptions in high‐penetrance SCA8 families increase RAN translation and protein toxicity

Autor: Christopher M. Gomez, Lawrence J. Schut, Yoshio Ikeda, Lisa E.L. Romano, Tetsuo Ashizawa, Tammy Reid, Lis Hasholt, Tao Zu, Thomas D. Bird, Kaalak Reddy, S Subramony, Barbara A. Perez, J. Andrew Berglund, Laura P.W. Ranum, Jørgen E. Nielsen, Hannah K. Shorrock, Lauren A. Laboissonniere, Monica Banez-Coronel, Alfredo Brusco

Publikováno v: EMBO Molecular Medicine
Perez, B A, Shorrock, H K, Banez-Coronel, M, Zu, T, Romano, L E, Laboissonniere, L A, Reid, T, Ikeda, Y, Reddy, K, Gomez, C M, Bird, T, Ashizawa, T, Schut, L J, Brusco, A, Berglund, J A, Hasholt, L F, Nielsen, J E, Subramony, S H & Ranum, L P 2021, ' CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity ', EMBO Molecular Medicine, vol. 13, no. 11, e14095 . https://doi.org/10.15252/emmm.202114095
EMBO Molecular Medicine, Vol 13, Iss 11, Pp n/a-n/a (2021)

Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance of SCA8,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ff48419dc26e4372e10886d7f4906a0
http://europepmc.org/articles/PMC8573593

The ataxia protein sacsin is required for integrin trafficking and synaptic organization

Autor: Anthony J. Hickey, Suran Nethisinghe, Abubakar Hatimy, Lei Xing, Charlotte L. Hall, Laura Perna, Wen Yih Aw, Stefanie D. Howell, Laura E. Herring, Tammy M. Havener, Josh Beri, Lee M. Graves, Ginevra Chioccioli Altadonna, Konstantinos Thalassinos, Justin M. Wolter, Kathryn M. Hixson, J. Paul Chapple, Lisa E.L. Romano, Tatiana V. Novoselova

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations in SACS, which manifest as a childhood-onset cerebellar ataxia. Cellular ARSACS phenotypes include mitochondrial dysfunction, intermediate filament (IF) disorga

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0ddf55dbd3a1a1167cccb374e46fa9a4
https://doi.org/10.1101/2021.08.20.456807

Antiproliferative effects of metformin in cellular models of pheochromocytoma

Autor: Rafael Abe da Rocha Miranda, Lisa E.L. Romano, Cinthia Gabriel Meireles, Eliete Neves Silva Guerra, Marcela Martins de Paula Oliveira, Luiz Alberto Simeoni, Caroline Lourenço de Lima, Francisco de Assis Rocha Neves, Teisha Yo-Stella Brashaw, J. Paul Chapple, Adriana Lofrano-Porto

Publikováno v: Molecular and cellular endocrinology. 539

Pheochromocytomas (PCCs) are rare neuroendocrine tumors derived from adrenal medulla chromaffin cells. Malignancy and recurrence are rare but demand effective treatment. Metformin exerts antiproliferative effects in several cancer cell lines. We thus

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de215853007eaae4627afb85a2c4fecc
https://pubmed.ncbi.nlm.nih.gov/34637881

Mitochondria Form Contact Sites with the Nucleus to Couple Pro-Survival Retrograde Response

Autor: J. Paul Chapple, Gyorgy Szabadkai, Maria Soledad Alvarez, Xia Dong, Lisa E.L. Romano, Rosella Abeti, Marta Mainenti, Robert B Bentham, Roland A. Fleck, Radha Desai, Liana Hardy, Daniel A. East, Laura Kuhlman Hussey, Anne Hamechar-Brady, Ken C. Smith, James Crosby, Valentina Zappulli, Aarti Singh, Manuel Rigon, Danilo Faccenda, Michelangelo Campanella, Gema Vizcay-Barrena, Gurtej K. Dhoot

Publikováno v: SSRN Electronic Journal.

Mitochondria drive cellular adaptation to stress by retro-communicating with the nucleus to promote cytoprotective mechanisms. This process of inter-organelles interplay is known as the Mitochondrial Retrograde Response (MRR) and is enacted by altera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d30060a6de7aa77c58d6acc1814ebb94
https://doi.org/10.2139/ssrn.3460241

Congregate Living and the Law as it Affects Older Adults

Autor: Lisa E.L. Romano, Jane Meadus

Publikováno v: SSRN Electronic Journal.

This paper examines the best ways of enforcing the rights of older adults residing in institutional settings (hospitals, long-term care homes and retirement homes) in Ontario, Canada. On paper, there appears to be a multitude of protections available

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::adb7b49762fc2ea5726d0439a1341c8d
https://doi.org/10.2139/ssrn.1634931