Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Maria Francisca Coutinho"'
Publikováno v:
Biomedicines, Vol 11, Iss 10, p 2615 (2023)
Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic diso
Externí odkaz:
https://doaj.org/article/b4e95d05aeca4fd3b21f78a96df074d9
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:
Revista Portuguesa de Cardiologia, Vol 32, Iss 10, Pp 793-799 (2013)
Resumo: O nível plasmático de c-LDL constitui um determinante chave para o risco de doença cardiovascular, razão pela qual muitos estudos têm procurado elucidar as vias que regulam o seu metabolismo. As novas técnicas de sequenciação de últi
Externí odkaz:
https://doaj.org/article/08a31709eb00449588a428c5d9d53cbd
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
Publikováno v:
Biochemistry Research International, Vol 2012 (2012)
Impaired degradation of glycosaminoglycans (GAGs) with consequent intralysosomal accumulation of undegraded products causes a group of lysosomal storage disorders known as mucopolysaccharidoses (MPSs). Characteristically, MPSs are recognized by incre
Externí odkaz:
https://doaj.org/article/ef773ea0262d44398e18ef6cb6d45414
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:
Laura Vilarinho, Paulo Chaves, Marisa Encarnação, Maria Francisca Coutinho, Elisa Leão Teles, Sandra Alves, Maria Teresa Cardoso, Isaura Ribeiro, Soo Min Cho, Anthony H. Futerman, Dulce Quelhas, Lúcia Lacerda, Juliana Inês Santos
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
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 molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a0d4b659735ceb9bbd33a7b297f02ce
https://doaj.org/article/94b35b0b1b8f48929d868f4bd5b5b6dd
https://doaj.org/article/94b35b0b1b8f48929d868f4bd5b5b6dd