KFU. Card publication. Translational Relevance of SCA1 Models for the Development of Therapies for Spinocerebellar Ataxia Type 1

KAZAN
FEDERAL UNIVERSITY

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TRANSLATIONAL RELEVANCE OF SCA1 MODELS FOR THE DEVELOPMENT OF THERAPIES FOR SPINOCEREBELLAR ATAXIA TYPE 1

Form of presentation

Articles in international journals and collections

Year of publication

2025

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Authors, employees of KFU

Ageeva Tatyana Vyacheslavovna, author

Mukhamedshina Yana Olegovna, author

Plotnikova Elizaveta Aleksandrovna, author

Rizvanov Albert Anatolevich, author

Other authors

Sufianov Albert Akramovich, author

Sufianova Galina Zinovevna, author

Bibliographic description in the original language

Plotnikova E. Translational Relevance of SCA1 Models for the Development of Therapies for Spinocerebellar Ataxia Type 1 / E. Plotnikova, T. Ageeva, A. Sufianov, G. Sufianova, A. Rizvanov, Y. Mukhamedshina // Biomedicines. – 2025. – Vol. 13. – � 12. – P. 3066.

Annotation

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative dis-ease caused by the expansion of cytosine–adenine–guanine (CAG) repeats in the ataxin-1 (ATXN1) gene, leading to toxic gain-of-function of the ataxin-1 (ATXN1) protein. This narrative review systematizes the clinical and genetic aspects of SCA1 and discusses key molecular and cellular mechanisms: the ATXN1-CIC ataxin-1-Capicua complex (ATXN1-CIC), the role of serine 776 (Ser776) phosphorylation, interactions with 14-3-3 proteins, transcriptional dysregulation, and critically analyzes experimental models of the disease in vivo and in vitro. In addition, it presents a descriptive quantitative analysis of the literature on in vivo SCA1 models, conducted using a defined search methodology with a cut-off date of 23 November 2025. For each model, phenotypic markers, molecular signatures, and applicability to preclinical testing tasks are summarized. A comparison of the models reveals their complementarity and outlines optimal research trajectories, including omics approaches and prospects for targeted antisense oligonucleotide (ASO) therapy, RNA interference (RNAi), and genome editing. The result is a practical guide for selecting a model in accordance with specific hypotheses and translational objectives.

Keywords

SCA1; ATXN1; polyglutamine expansion; Purkinje neurons; ATXN1-CIC; 14-3-3; B05; HEK293; translational medicine; targeted therapy

The name of the journal

Biomedicines

URL

https://www.mdpi.com/2227-9059/13/12/3066

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=324520&p_lang=2

Resource files

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biomedicines_13_03066_v3.pdf	1,15	pdf	show / download

Full metadata record

Field DC	Value	Language
dc.contributor.author	Ageeva Tatyana Vyacheslavovna	ru_RU
dc.contributor.author	Mukhamedshina Yana Olegovna	ru_RU
dc.contributor.author	Plotnikova Elizaveta Aleksandrovna	ru_RU
dc.contributor.author	Rizvanov Albert Anatolevich	ru_RU
dc.contributor.author	Sufianov Albert Akramovich	ru_RU
dc.contributor.author	Sufianova Galina Zinovevna	ru_RU
dc.date.accessioned	2025-01-01T00:00:00Z	ru_RU
dc.date.available	2025-01-01T00:00:00Z	ru_RU
dc.date.issued	2025	ru_RU
dc.identifier.citation	Plotnikova E. Translational Relevance of SCA1 Models for the Development of Therapies for Spinocerebellar Ataxia Type 1 / E. Plotnikova, T. Ageeva, A. Sufianov, G. Sufianova, A. Rizvanov, Y. Mukhamedshina // Biomedicines. – 2025. – Vol. 13. – � 12. – P. 3066.	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=324520&p_lang=2	ru_RU
dc.description.abstract	Biomedicines	ru_RU
dc.description.abstract	Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative dis-ease caused by the expansion of cytosine–adenine–guanine (CAG) repeats in the ataxin-1 (ATXN1) gene, leading to toxic gain-of-function of the ataxin-1 (ATXN1) protein. This narrative review systematizes the clinical and genetic aspects of SCA1 and discusses key molecular and cellular mechanisms: the ATXN1-CIC ataxin-1-Capicua complex (ATXN1-CIC), the role of serine 776 (Ser776) phosphorylation, interactions with 14-3-3 proteins, transcriptional dysregulation, and critically analyzes experimental models of the disease in vivo and in vitro. In addition, it presents a descriptive quantitative analysis of the literature on in vivo SCA1 models, conducted using a defined search methodology with a cut-off date of 23 November 2025. For each model, phenotypic markers, molecular signatures, and applicability to preclinical testing tasks are summarized. A comparison of the models reveals their complementarity and outlines optimal research trajectories, including omics approaches and prospects for targeted antisense oligonucleotide (ASO) therapy, RNA interference (RNAi), and genome editing. The result is a practical guide for selecting a model in accordance with specific hypotheses and translational objectives.	ru_RU
dc.language.iso	ru	ru_RU
dc.subject		ru_RU
dc.title	Translational Relevance of SCA1 Models for the Development of Therapies for Spinocerebellar Ataxia Type 1	ru_RU
dc.type	Articles in international journals and collections	ru_RU