7 documents found, page 1 of 1
Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants an...
Encarnação, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, Dulce; Alves, SandraNiemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathog...
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...
Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, SandraDespite 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 particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...
Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants an...
Encarnação, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, D; Alves, SandraNiemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathog...
MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the...
Encarnação, Marisa; David, Hugo; Coutinho, Maria Francisca; Moreira, Luciana; Alves, SandraLipids 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 disorders. MicroRNAs (miRNAs), in particular, are a family of post-transcriptional gene repressors associated with the regulation of many genes that encode proteins inv...
Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A K...
Carvalho, Sofia; Santos, Juliana Inês; Moreira, Luciana; Gonçalves, Mariana; David, Hugo; Matos, Liliana; Encarnação, Marisa; Alves, SandraDespite 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 particularly true for the neuropathology of these disorders; the neurological symptoms are currently incurable, even in the cases where a disease-specific therapeutic approach...
Exosomal microRNAs as possible biomarkers for a rare disease affecting lipids
Encarnação, Marisa; David, Hugo; Ribeiro, Isaura; Vieira, Luís; Carneiro Silva, Catarina; Martins, Esmeralda; Cardoso, Maria TeresaExosomes mediate the communication between cells and the characterization of their content can provide important insights into health and disease. Their cargo includes proteins, lipids and nucleic acids (including microRNAs (miRNAs)). miRNAs regulate many cellular processes, including metabolism. (...)
Twenty Years Later: A New Case Of Endolymphatic Tube Infection, Internal Otitis...
Pereira, Nuno; Faustino, Ricardo; Faísca, Pedro; Veríssimo, Cristina; David, Hugo; Núria, BaylinaFusarium solani infections in elasmobranchs are described mainly with skin, lateral line, skeletal muscle, and cartilage involvement. We described F. solani cases with head subcutaneous abscess of the endolymphatic tubes, labyrinthitis and meningitis in 4 Port Jackson sharks, occurring c. twenty years ago.4 Last year, we had a new case with a similar clinical and histopathology presentation.