From the molecular hallmarks to motor behavior: characterization of a new transgenic mouse model for spinocerebellar ataxia type 2

Afonso, Inês T.; Koppenol, Rebekah; Conceição, André; Paulino, Rodrigo; Mirapalheta, Lourenzo; Matos, Carlos A; Nóbrega, Clévio

Publication

From the molecular hallmarks to motor behavior: characterization of a new transgenic mouse model for spinocerebellar ataxia type 2

2023-08Conference object

dc.contributor.author	Afonso, Inês T.
dc.contributor.author	Koppenol, Rebekah
dc.contributor.author	Conceição, André
dc.contributor.author	Paulino, Rodrigo
dc.contributor.author	Mirapalheta, Lourenzo
dc.contributor.author	Matos, Carlos A
dc.contributor.author	Nóbrega, Clévio
dc.date.accessioned	2023-11-28T10:42:57Z
dc.date.available	2023-11-28T10:42:57Z
dc.date.issued	2023-08
dc.description.abstract	Spinocerebellar ataxia type 2 (SCA2) is a rare disease with no cure, and therefore patients depend on symptomatic and supportive treatments. It is a highly debilitating disease affecting predominantly the brain with symptoms that include motor and coordination impairment. SCA2 is caused by an abnormal expansion of the CAG triplet in the coding region of the ATXN2 gene. When it has above 33 CAG repeats, it originates a protein with an abnormally expanded glutamine tract. The mutant protein impairs several cellular functions, leading to neuronal degeneration and death. Several rodent models were developed to study the neuropathology and potential therapies for SCA2. However, most of them fail to mimic a complete SCA2 phenotype, taking too long to develop diseaserelated symptoms or failing to display neuronal-associated deficits.	pt_PT
dc.description.version	info:eu-repo/semantics/publishedVersion	pt_PT
dc.identifier.eissn	1471-4159
dc.identifier.uri	http://hdl.handle.net/10400.1/20175
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.publisher	Wiley	pt_PT
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/	pt_PT
dc.title	From the molecular hallmarks to motor behavior: characterization of a new transgenic mouse model for spinocerebellar ataxia type 2	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.endPage	69	pt_PT
oaire.citation.startPage	69	pt_PT
oaire.citation.title	Journal of Neuochemistry	pt_PT
oaire.citation.volume	166	pt_PT
person.familyName	Torquato Afonso
person.familyName	Koppenol
person.familyName	Vieira da Conceição
person.familyName	Paulino
person.familyName	Albuquerque Andrade de Matos
person.familyName	Nóbrega
person.givenName	Inês
person.givenName	Rebekah
person.givenName	André Filipe
person.givenName	Rodrigo
person.givenName	Carlos Adriano
person.givenName	Clévio
person.identifier.ciencia-id	F710-8071-CA06
person.identifier.ciencia-id	DC14-C299-222A
person.identifier.ciencia-id	C510-7F41-BAF8
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person.identifier.orcid	0000-0002-0304-6069
person.identifier.orcid	0000-0002-9019-7569
person.identifier.orcid	0000-0002-8312-5292
person.identifier.rid	K-9368-2017
person.identifier.rid	M-6047-2013
person.identifier.scopus-author-id	24473454000
rcaap.rights	openAccess	pt_PT
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