Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Juliana Inês Santos"'
Autor:
Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Mariana Gonçalves, Hugo David, Liliana Matos, Marisa Encarnação, Sandra Alves, Maria Francisca Coutinho
Publikováno v:
Biomedicines, Vol 11, Iss 4, p 1234 (2023)
Despite extensive research, the links between the accumulation of glycosaminoglycans (GAGs) and the clinical features seen in patients suffering from various forms of mucopolysaccharidoses (MPSs) have yet to be further elucidated. This is particularl
Externí odkaz:
https://doaj.org/article/8d5a8387adf34a2898850226e565487e
Autor:
Juliana Inês Santos, Mariana Gonçalves, Liliana Matos, Luciana Moreira, Sofia Carvalho, Maria João Prata, Maria Francisca Coutinho, Sandra Alves
Publikováno v:
Life, Vol 12, Iss 5, p 608 (2022)
Over recent decades, the many functions of RNA have become more evident. This molecule has been recognized not only as a carrier of genetic information, but also as a specific and essential regulator of gene expression. Different RNA species have bee
Externí odkaz:
https://doaj.org/article/f63e9b6f3b774125934e9d7e77ee6cf4
Autor:
Marisa Encarnação, Maria Francisca Coutinho, Soo Min Cho, Maria Teresa Cardoso, Isaura Ribeiro, Paulo Chaves, Juliana Inês Santos, Dulce Quelhas, Lúcia Lacerda, Elisa Leão Teles, Anthony H. Futerman, Laura Vilarinho, Sandra Alves
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Abstract Background Niemann‐Pick type C (NPC, MIM #257220) is a neuro‐visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the m
Externí odkaz:
https://doaj.org/article/94b35b0b1b8f48929d868f4bd5b5b6dd
Autor:
Maria Francisca Coutinho, Marisa Encarnação, Liliana Matos, Lisbeth Silva, Diogo Ribeiro, Juliana Inês Santos, Maria João Prata, Laura Vilarinho, Sandra Alves
Publikováno v:
Diagnostics, Vol 10, Iss 2, p 58 (2020)
Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final
Externí odkaz:
https://doaj.org/article/31331fcb53034953abc929eac3eadb2e
Publikováno v:
Diseases, Vol 4, Iss 4, p 33 (2016)
Lysosomal storage diseases are a group of rare genetic disorders characterized by the accumulation of storage molecules in late endosomes/lysosomes. Most of them result from mutations in genes encoding for the catabolic enzymes that ensure intralysos
Externí odkaz:
https://doaj.org/article/a293d343aa344054a25ada713b9977b8
Autor:
Liliana Matos, Sandra Alves, Juliana Inês Santos, Melissa Rocha, Paulo Gaspar, Maria João Prata, Maria Francisca Coutinho, Regina Vilela
Publikováno v:
Human Gene Therapy. 31:775-783
Lysosomal Storage Disorders (LSDs) are a group of rare inherited metabolic diseases caused by the malfunction of the lysosomal system, which results in the accumulation of undegraded substrates inside the lysosomes and leads to severe and progressive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d1af52f6206922473b82ba7d1c833cf
https://doi.org/10.1089/hum.2020.034
https://doi.org/10.1089/hum.2020.034
Autor:
Maria C. Pedroso de Lima, Liliana Mendonça, Sandra Alves, Liliana Matos, Maria Francisca Coutinho, Juliana Inês Santos, Maria João Prata, Amália S. Jurado
Publikováno v:
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 21, Iss 5732, p 5732 (2020)
International Journal of Molecular Sciences, Vol 21, Iss 5732, p 5732 (2020)
Review More than two thirds of Lysosomal Storage Diseases (LSDs) present central nervous system involvement. Nevertheless, only one of the currently approved therapies has an impact on neuropathology. Therefore, alternative approaches are under devel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a686a98e710a8a86dbce40343c85c24
https://hdl.handle.net/10400.18/7380
https://hdl.handle.net/10400.18/7380
Publikováno v:
Advances in experimental medicine and biology. 1157
In recent years, the RNA molecule became one of the most promising targets for therapeutic intervention. Currently, a large number of RNA-based therapeutics are being investigated both at the basic research level and in late-stage clinical trials. So
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c65ae0ae2ab715e422fe6c496bb85568
https://pubmed.ncbi.nlm.nih.gov/31342441
https://pubmed.ncbi.nlm.nih.gov/31342441
Publikováno v:
The mRNA Metabolism in Human Disease ISBN: 9783030199654
In recent years, the RNA molecule became one of the most promising targets for therapeutic intervention. Currently, a large number of RNA-based therapeutics are being investigated both at the basic research level and in late-stage clinical trials. So
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f9e486dc7f39f4078f8a2ca6d4448ff
https://doi.org/10.1007/978-3-030-19966-1_7
https://doi.org/10.1007/978-3-030-19966-1_7
Restoring TGFβ1 pathway-related microRNAs: possible impact in metastatic prostate cancer development
Autor:
Mónica Gomes, Rui Medeiros, Francisca Dias, Ana Teixeira, Augusto Nogueira, Joana Assis, Juliana Inês Santos
Publikováno v:
Tumor Biology. 35:6245-6253
In developed countries, prostate cancer (PC) is the neoplasia more frequently diagnosed in men. The signaling pathway induced by the transforming growth factor β1 (TGFβ1) has an important role in cell growth, differentiation, and development, the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76604ca651309a1eb9f61459e049e7ce
https://doi.org/10.1007/s13277-014-1887-z
https://doi.org/10.1007/s13277-014-1887-z