Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Ana Joana Duarte"'
Autor:
Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte, Paulo Gaspar, Hugo Rocha, Marisa Encarnação, Diogo Ribeiro, Matilde Barbosa Almeida, Mariana Gonçalves, Hugo David, Liliana Matos, Olga Amaral, Luísa Diogo, Sara Ferreira, Constança Santos, Esmeralda Martins, Maria João Prata, Luís Pereira de Almeida, Sandra Alves, Maria Francisca Coutinho
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 6, p 3546 (2024)
Among the many lysosomal storage disorders (LSDs) that would benefit from the establishment of novel cell models, either patient-derived or genetically engineered, is mucopolysaccharidosis type II (MPS II). Here, we present our results on the establi
Externí odkaz:
https://doaj.org/article/cb3430bbef714d0a8a945d9dc54a2427
Autor:
Olga Amaral, Mariana Martins, Ana Rita Oliveira, Ana Joana Duarte, Inês Mondragão-Rodrigues, M. Fátima Macedo
Publikováno v:
Biomedicines, Vol 11, Iss 1, p 213 (2023)
Since its discovery in 1955, the understanding of the lysosome has continuously increased. Once considered a mere waste removal system, the lysosome is now recognised as a highly crucial cellular component for signalling and energy metabolism. This n
Externí odkaz:
https://doaj.org/article/40d35628f24d401b826a8b4a844084ff
Publikováno v:
Stem Cell Research, Vol 45, Iss , Pp - (2020)
Fabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-l
Externí odkaz:
https://doaj.org/article/34a55bcc820b4ad0b3b3e9669c052f97
Publikováno v:
Stem Cell Research, Vol 41, Iss , Pp - (2019)
Gaucher Disease (GD) type 3 is a neurological form of a multisystemic autosomal recessive disorder belonging to the group of lysosomal storage diseases. Causal mutations in the glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, het
Externí odkaz:
https://doaj.org/article/07d9889b90434447a9d672045d0a04dd
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 4, Iss C, Pp 68-71 (2015)
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 regardin
Externí odkaz:
https://doaj.org/article/e6f4263813e04905bff8b2e14b84b6e5
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 11, p 3409 (2018)
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 computatio
Externí odkaz:
https://doaj.org/article/6ded04b575dc48deb3bd5f91fe1f133b
Publikováno v:
Genes, Vol 9, Iss 9, p 455 (2018)
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 psychosoci
Externí odkaz:
https://doaj.org/article/b35640149b584c6184c1255deb9d4ef4
Publikováno v:
Stem Cell Research, Vol 45, Iss, Pp-(2020)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
O trabalho foi desenvolvido no DGH do INSA em colaboração com participantes do DGH do Porto e de Lisboa ao abrigo do projeto PTDC/BIM-MEC/4762/2014. Fabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal stor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f9737ef89e008369e742cd80ee684f8
https://hdl.handle.net/10400.1/14676
https://hdl.handle.net/10400.1/14676
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 11, p 3409 (2018)
International Journal of Molecular Sciences
International Journal of Molecular Sciences
Free PMC Article: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275066/ Note: Where it reads BBB-BMD/6301, should be PTDC/BIM-MEC/4762/2014. Erro de edição, tendo sido solicitado correção. In order to delineate a better approach to functional stu
Publikováno v:
Genes
Genes, Vol 9, Iss 9, p 455 (2018)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Genes, Vol 9, Iss 9, p 455 (2018)
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Brief Report 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 a