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dc.contributor.author
Gatto, Emilia Mabel
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dc.contributor.author
Radrizzani Helguera, Martin
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dc.contributor.author
González Rojas, Natalia
dc.contributor.author
Cesarini, Martin Emiliano
dc.contributor.author
Etcheverry, José Luis
dc.contributor.author
Perandones, Claudia
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dc.date.available
2022-01-03T15:27:51Z
dc.date.issued
2021-08
dc.identifier.citation
Gatto, Emilia Mabel; Radrizzani Helguera, Martin; González Rojas, Natalia; Cesarini, Martin Emiliano; Etcheverry, José Luis; et al.; Challenges in Clinico-Genetic Correlations in Parkinson’s disease (PD): The Role of Copy Number Variants (CNV); SciVision Publishers; Genetics & Molecular Medicine; 3; 8-2021; 1-10
dc.identifier.issn
2689-1077
dc.identifier.uri
http://hdl.handle.net/11336/149510
dc.description.abstract
Parkinson’s disease (PD) represents the second most common neurodegenerative disease and remains incurable. Mutations in multiple genes have been linked to monogenic PD (gPD); these monogenic forms, however, represent a small number of cases while in most instances PD appears as idiopathic (iPD). These findings raise the question of whether genetic and idiopathic parkinsonisms constitute the same disease. Nevertheless, monogenic-PD phenotypes and iPD both fulfill MDS criteria for PD, and show evidence of alpha-synuclein aggregates in both conditions. Distinct genetic loci in rare Mendelian forms have been identified as causal mutations, others as possible disease-causing genes, and genome-wide association studies have reported several risk loci, many of them located in the genes associated with the dominant mutations. Not only single-nucleotide polymorphisms (SNPs), but other kinds of DNA molecular defects as well have been spotted as significant disease-causing mutations, including large chromosomal structural rearrangements and copy number variations (CNVs). As their size varies, and detection methodologies have different sensitivity and resolution, CNVs pose a special challenge in genetic studies, and there currently is a debate on the pathogenetic or susceptibility impact of specific CNVs on PD. In this review, through multiple instances of experimental evidence, we analyze the impact on histopathology of the different mutational mechanisms involved in the genesis and etiology of PD. We believe that increasing our knowledge about the changes and implications at tissue level produced by each of those mechanisms will allow to develop much more suitable and personalized potential therapeutic strategies, biomarker identification, as well as disease modeling, agreeing with the precision medicine concept.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
SciVision Publishers
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Parkinson Disease
dc.subject
Genetic Mosaicism.
dc.subject
Fluorescense-In-Situ-Hibridization
dc.subject
Copy Number Variant
dc.subject.classification
Tecnologías que involucran la identificación de ADN, proteínas y enzimas, y cómo influyen en el conjunto de enfermedades y mantenimiento del bienestar
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dc.subject.classification
Biotecnología de la Salud
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dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
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dc.title
Challenges in Clinico-Genetic Correlations in Parkinson’s disease (PD): The Role of Copy Number Variants (CNV)
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-01-03T13:57:44Z
dc.journal.volume
3
dc.journal.pagination
1-10
dc.journal.pais
Estados Unidos
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dc.journal.ciudad
Delaware
dc.description.fil
Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; Argentina
dc.description.fil
Fil: Radrizzani Helguera, Martin. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de San Martín; Argentina
dc.description.fil
Fil: González Rojas, Natalia. Instituto de Neurociencias Buenos Aires S. A.; Argentina
dc.description.fil
Fil: Cesarini, Martin Emiliano. Instituto de Neurociencias Buenos Aires S. A.; Argentina
dc.description.fil
Fil: Etcheverry, José Luis. Instituto de Neurociencias Buenos Aires S. A.; Argentina
dc.description.fil
Fil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación.Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"; Argentina
dc.journal.title
Genetics & Molecular Medicine
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.scivisionpub.com/pdfs/challenges-in-clinicogenetic-correlations-in-parkinsons-disease-pd-the-role-of-copy-number-variants-cnv-1817.pdf
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