Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.

Spinocerebellar ataxia type 3 (SCA3) is a cureless neurodegenerative disease recognized as the most prevalent form of dominantly inherited ataxia worldwide. The main hallmark of SCA3 is the expansion of a polyglutamine tract located in the C-terminal of Ataxin-3 (or ATXN3) protein, that triggers the...

Full description

Saved in:
Bibliographic Details
Main Authors: Grégoire Quinet, María Cristina Paz-Cabrera, Raimundo Freire
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2024-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0315868
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850281450834755584
author Grégoire Quinet
María Cristina Paz-Cabrera
Raimundo Freire
author_facet Grégoire Quinet
María Cristina Paz-Cabrera
Raimundo Freire
author_sort Grégoire Quinet
collection DOAJ
description Spinocerebellar ataxia type 3 (SCA3) is a cureless neurodegenerative disease recognized as the most prevalent form of dominantly inherited ataxia worldwide. The main hallmark of SCA3 is the expansion of a polyglutamine tract located in the C-terminal of Ataxin-3 (or ATXN3) protein, that triggers the mis-localization and toxic aggregation of ATXN3 in neuronal cells. The propensity of wild type and polyglutamine-expanded ATXN3 proteins to aggregate has been extensively studied over the last decades. In vitro studies with mass spectrometry techniques revealed a time-dependent aggregation of polyglutamine-expanded ATXN3 that occurs in several steps, leading to fibrils formation, a high status of aggregation. For in vivo experiments though, the techniques commonly used to demonstrate aggregation of polyglutamine proteins, such as filter trap assays, SDS-PAGE and SDS-AGE, are unable to unequivocally show all the stages of aggregation of wild type and polyglutamine-expanded ATXN3 proteins. Here we describe a systematic and detailed analysis of different known techniques to detect the various forms of both wild type and pathologic ATXN3 aggregates, and we discuss the power and limitation of each strategy.
format Article
id doaj-art-d657258dd7ef48fa8ffd922bf683dcbb
institution OA Journals
issn 1932-6203
language English
publishDate 2024-01-01
publisher Public Library of Science (PLoS)
record_format Article
series PLoS ONE
spelling doaj-art-d657258dd7ef48fa8ffd922bf683dcbb2025-08-20T01:48:19ZengPublic Library of Science (PLoS)PLoS ONE1932-62032024-01-011912e031586810.1371/journal.pone.0315868Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.Grégoire QuinetMaría Cristina Paz-CabreraRaimundo FreireSpinocerebellar ataxia type 3 (SCA3) is a cureless neurodegenerative disease recognized as the most prevalent form of dominantly inherited ataxia worldwide. The main hallmark of SCA3 is the expansion of a polyglutamine tract located in the C-terminal of Ataxin-3 (or ATXN3) protein, that triggers the mis-localization and toxic aggregation of ATXN3 in neuronal cells. The propensity of wild type and polyglutamine-expanded ATXN3 proteins to aggregate has been extensively studied over the last decades. In vitro studies with mass spectrometry techniques revealed a time-dependent aggregation of polyglutamine-expanded ATXN3 that occurs in several steps, leading to fibrils formation, a high status of aggregation. For in vivo experiments though, the techniques commonly used to demonstrate aggregation of polyglutamine proteins, such as filter trap assays, SDS-PAGE and SDS-AGE, are unable to unequivocally show all the stages of aggregation of wild type and polyglutamine-expanded ATXN3 proteins. Here we describe a systematic and detailed analysis of different known techniques to detect the various forms of both wild type and pathologic ATXN3 aggregates, and we discuss the power and limitation of each strategy.https://doi.org/10.1371/journal.pone.0315868
spellingShingle Grégoire Quinet
María Cristina Paz-Cabrera
Raimundo Freire
Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
PLoS ONE
title Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
title_full Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
title_fullStr Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
title_full_unstemmed Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
title_short Biochemical analysis to study wild-type and polyglutamine-expanded ATXN3 species.
title_sort biochemical analysis to study wild type and polyglutamine expanded atxn3 species
url https://doi.org/10.1371/journal.pone.0315868
work_keys_str_mv AT gregoirequinet biochemicalanalysistostudywildtypeandpolyglutamineexpandedatxn3species
AT mariacristinapazcabrera biochemicalanalysistostudywildtypeandpolyglutamineexpandedatxn3species
AT raimundofreire biochemicalanalysistostudywildtypeandpolyglutamineexpandedatxn3species