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Ana Joana Duarte
Intelligence and National Security Alliance
Unverricht–Lundborg diseaseMutationGeneticsRNA splicingBiology
29Publications
3H-index
25Citations
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Publications 29
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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
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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
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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
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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
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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
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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".
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#2Ana Joana DuarteH-Index: 3
Last. Sandra AlvesH-Index: 2
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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).
#2Ana Joana DuarteH-Index: 3
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_Resumo As Doencas Lisososomais de Sobrecarga (DLS) sao um grupo de mais de 50 doencas hereditarias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais especificas. A caracteristica distintiva das DLS e a acumulacao lisossomal do(s) substrato(s) nao degradado(s), bem como a acumulacao de outro material secundariamente a disfuncao lisossomal. A apresentacao clinica destas patologias e bastante heterogenea, variando desde formas pre-natais, ate apresentacoes infantis ou na ...
#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...
Cystatin B (CSTB) gene mutations cause Unverricht–Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at the population level and at the cellular level. The cellular fractionation studies here carried out showed mislocalization of the protein and a...
5 CitationsSource
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