Data on the effects of Hyptis spp. and Lycium spp. plant extracts in C. elegans models of genetically determined neurodegenerative diseases

Autor: Daniela Vilasboas-Campos, Marta Daniela Costa, Andreia Teixeira-Castro, Rejaine Rios, Fabiano Guimarães Silva, Aili Aierken, Xiaoying Zhang, Carlos Bessa, Alberto C.P. Dias, Patrícia Maciel

Publikováno v: Data in Brief, Vol 33, Iss , Pp 106598- (2020)

Here, we present the data on the biological effects of Hyptis spp. and Lycium spp. plant extracts in Caenorhabditis elegans (C. elegans) models of neurodegenerative diseases, which is related to the work presented in the article “Neurotherapeutic e

Externí odkaz: https://doaj.org/article/555d8f265daf4ea083b0ab984cd513b3

Data on the effects of Hyptis spp. and Lycium spp. plant extracts in C. elegans models of genetically determined neurodegenerative diseases

Autor: Alberto Carlos Pires Dias, Aili Aierken, Carlos Bessa, Fabiano Guimarães Silva, Daniela Vilasboas-Campos, Rejaine Rios, Xiaoying Zhang, Marta Daniela Costa, Patrícia Maciel, Andreia Teixeira-Castro

Publikováno v: Data in Brief, Vol 33, Iss, Pp 106598-(2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

Supplementary material associated with this article can be found in the online version at: doi:10.1016/j.dib.2020.106598.
Here, we present the data on the biological effects of Hyptis spp. and Lycium spp. plant extracts in Caenorhabditis elegans

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f1f61d5aac3fb5564356cb1f3958a61
http://www.sciencedirect.com/science/article/pii/S2352340920314785

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations

Autor: Anu Jalanko, Claudia Heine, Mia-Lisa Schmiedt, Aija Kyttälä, Carlos Bessa, Maria Gil Ribeiro

Publikováno v: Human Mutation. 31:356-365

Neuronal ceroid lipofuscinoses (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations in at least eight different genes. Mutations in the CLN5 gene result in the Finnish variant late infantile NCL characteriz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e03c16b6ce58e2821b3b8f1e831f6321
https://doi.org/10.1002/humu.21195

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

Autor: Chansonette Badukke, Carlos Bessa, Gabriela Soares, Nina Isoherranen, Cara R. Nelson, Sandra A. Farrell, Sally Martell, Fátima Lopes, Patrícia Maciel, Bauke Ylstra, Suzanne M E Lewis, Evica Rajcan-Separovic, Ying Qiao, Jiadi Wen

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Orphanet Journal of Rare Diseases, 8:100. BioMed Central
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
Orphanet Journal of Rare Diseases
Wen, J, Lopes, F, Soares, G, Farrell, S A, Nelson, C, Qiao, Y, Martell, S, Badukke, C, Bessa, C, Ylstra, B, Lewis, S, Isoherranen, N, Maciel, P & Rajcan-Separovic, E 2013, ' Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2 ', Orphanet Journal of Rare Diseases, vol. 8, 100 . https://doi.org/10.1186/1750-1172-8-100

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2.
Rare, recurrent genomic imbalances facilitate the association of genotype with abnormalities

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5a305ef41759704654626fc068a70b2
https://hdl.handle.net/10400.16/1694

Molecular genetics of intellectual disability

Autor: Carlos Bessa, Fátima Lopes, Patrícia Maciel

Publikováno v: Latest Findings in Intellectual and Developmental Disabilities Research

The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7654ebc9bb129e0b3528b43aeaf4cb40
https://hdl.handle.net/1822/20437