Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes

Alexandra F Putka¹, Hayley S McLoughlin²

Affiliations

¹ Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.
² Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA. Electronic address: hayleymc@med.umich.edu.

PMID: 36796325
DOI: 10.1016/j.neuron.2023.01.021

Free article

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Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes

Alexandra F Putka et al. Neuron. 2023.

Free article

. 2023 Feb 15;111(4):447-449.

doi: 10.1016/j.neuron.2023.01.021.

Authors

Alexandra F Putka¹, Hayley S McLoughlin²

Affiliations

¹ Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.
² Department of Neurology, University of Michigan, Ann Arbor, MI 48109-2200, USA. Electronic address: hayleymc@med.umich.edu.

PMID: 36796325
DOI: 10.1016/j.neuron.2023.01.021

Abstract

In this issue of Neuron, a pair of studies (Handler et al.¹ and Coffin et al.²) elucidate new insights into spinocerebellar ataxia type 1 (SCA1) pathogenesis by genetically assessing mechanistic drivers of regional vulnerability and their relationships to SCA1 phenotypes.

Published by Elsevier Inc.

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Conflict of interest statement

Declaration of interests The authors declare no competing interests.

Comment on

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.
Coffin SL, Durham MA, Nitschke L, Xhako E, Brown AM, Revelli JP, Villavicencio Gonzalez E, Lin T, Handler HP, Dai Y, Trostle AJ, Wan YW, Liu Z, Sillitoe RV, Orr HT, Zoghbi HY. Coffin SL, et al. Neuron. 2023 Feb 15;111(4):481-492.e8. doi: 10.1016/j.neuron.2022.11.016. Epub 2022 Dec 27. Neuron. 2023. PMID: 36577402 Free PMC article.
Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.
Handler HP, Duvick L, Mitchell JS, Cvetanovic M, Reighard M, Soles A, Mather KB, Rainwater O, Serres S, Nichols-Meade T, Coffin SL, You Y, Ruis BL, O'Callaghan B, Henzler C, Zoghbi HY, Orr HT. Handler HP, et al. Neuron. 2023 Feb 15;111(4):493-507.e6. doi: 10.1016/j.neuron.2022.11.017. Epub 2022 Dec 27. Neuron. 2023. PMID: 36577403 Free PMC article.

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R01 NS122751/NS/NINDS NIH HHS/United States

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Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes

Affiliations

Diverse regional mechanisms drive spinocerebellar ataxia type 1 phenotypes

Authors

Affiliations

Abstract

Conflict of interest statement

Comment on

Publication types

MeSH terms

Grants and funding

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