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Olga Amaral
Intelligence and National Security Alliance
AlleleUnverricht–Lundborg diseaseMutationGeneticsBiology
47Publications
9H-index
418Citations
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Publications 47
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Sphingolipidoses are inherited genetic diseases characterized by the accumulation of glycosphingolipids. Sphingolipidoses (SP), which usually involve the loss of sphingolipid hydrolase function, are of lysosomal origin, and represent an important group of rare diseases among lysosomal storage disorders. Initial treatments consisted of enzyme replacement therapy, but, in recent decades, various therapeutic approaches have been developed. However, these commonly used treatments for SP fail to be f...
1 CitationsSource
In order to delineate a better approach to functional studies, we have selected 23 missense mutations distributed in different domains of two lysosomal enzymes, to be studied by in silico analysis. In silico analysis of mutations relies on computational modeling to predict their effects. Various computational platforms are currently available to check the probable causality of mutations encountered in patients at the protein and at the RNA levels. In this work we used four different platforms fr...
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#1Liliana MatosH-Index: 7
#2Ana Joana DuarteH-Index: 3
Last. Sandra AlvesH-Index: 17
view all 6 authors...
Unverricht-Lundborg disease (ULD) is a common form of progressive myoclonic epilepsy caused by mutations in the cystatin B gene (CSTB) that encodes an inhibitor of several lysosomal cathepsins. Presently, only pharmacological treatment and psychosocial support are available for ULD patients. To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. A specifi...
2 CitationsSource
#1Ana Joana DuarteH-Index: 3
#2Luciana MoreiraH-Index: 3
Last. Olga AmaralH-Index: 9
view all 5 authors...
LM, DR were grantees of FCT: PTDC/BIM-MEC/4762/2014 (2016-) and AJD was recipient of a PhD grant from FCT SFRH/BD/118009/2016.
#1Ana Joana DuarteH-Index: 3
#2José BragançaH-Index: 16
Last. Olga AmaralH-Index: 9
view all 4 authors...
Funded by the Fundacao para a Ciencia e Tecnologia: (FCT) Grant: PTDC/BIM-MEC/4762/2014 (2016-) FCT Grant Holders AJD: SFRH/BD/118009/2016 MFC: SFRH/BPD/101965/2014
#1Ana Joana DuarteH-Index: 3
#2José BragançaH-Index: 16
Last. Olga AmaralH-Index: 9
view all 3 authors...
UniAlgarve and INSA collaboration under FCT project. Ana Joana Duarte is a PhD student at ICBAS-University of Porto.
#1Ana Joana DuarteH-Index: 3
#2José BragançaH-Index: 16
Last. Olga AmaralH-Index: 9
view all 3 authors...
Work carried out at Centro de Saude Publica Dr. Goncalves Ferreira (Porto) and Universidade do Algarve- Faro (supervision of Prof. Braganca).
#1Ana Joana Duarte (INSA: Intelligence and National Security Alliance)H-Index: 3
#2Diogo Ribeiro (INSA: Intelligence and National Security Alliance)H-Index: 2
Last. Olga Amaral (INSA: Intelligence and National Security Alliance)H-Index: 9
view all 4 authors...
This work was financially supported by National Funds through FCT—Fundacao para a Ciencia e a Tecnologia (MCTES—Portugal) under Project ‘‘PIC/IC/82822/2007’’ and ‘‘PTDC/BIM-MEC/4762/2014’’. AJD was grant recipient under ‘‘PIC/IC/82822/2007’ and ‘‘PTDC/ BIM-MEC/4762/2014’’; DR was grant recipient under ‘‘PIC/IC/82822/2007".
Source
#2Olga AmaralH-Index: 9
Last. José BragançaH-Index: 16
view all 3 authors...
Fundacao para a Ciencia e Tecnologia no âmbito do projecto PTDC/BIM-MEC/4762/2014 - Cellular models for the study of lysosomal dysfunction and correction mechanisms (CeMoLy).
#2Ana Joana DuarteH-Index: 3
Last. Sandra AlvesH-Index: 2
view all 6 authors...
Estudos parcialmente financiados pela Comissao de Fomento da Investigacao em Cuidados de Saude, Ministerio da Saude (P.I. no 99/2007 e no 100/2007) e pela Fundacao para a Ciencia e a Tecnologia (PIC/IC/83252/2007 e PIC/IC/82822/2007).
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