50 documents found, page 1 of 5
Restoring neuropetide Y levels in the hypothalamus ameliorates premature aging ...
Ferreira-Marques, Marisa; Carmo Silva, Sara; Pereira, Joana; Botelho, Mariana; Nóbrega, Clévio; López‐Otín, Carlos; Almeida, Luís Pereira deThe hypothalamus has been recognized as a regulator of whole-body aging. Neuropeptide Y (NPY), highly abundant in the central nervous system and produced by the hypothalamus, enhances autophagy in this brain region and mediates autophagy triggered by caloric restriction, suggesting a potential role as a caloric restriction mimetic and an aging regulator. Considering that hypothalamic NPY levels decline during a...
Brain-targeted drug delivery - nanovesicles directed to specific brain cells by...
Moreira, Ricardo; Nóbrega, Clévio; Almeida, Luís Pereira de; Mendonça, LilianaNeurodegenerative diseases are characterized by extensive loss of function or death of brain cells, hampering the life quality of patients. Brain-targeted drug delivery is challenging, with a low success rate this far. Therefore, the application of targeting ligands in drug vehicles, such as lipid-based and polymeric nanoparticles, holds the promise to overcome the blood-brain barrier (BBB) and direct therapies...
Isolation of Extracellular Vesicles from Human Follicular Fluid: Size-Exclusion...
Soares, Maria; Pinto, Maria M.; Nobre, Rui J.; Almeida, Luís Pereira de; Rasteiro, Maria da Graça; Santos, Teresa Almeida; Santos, João RamalhoFollicular fluid (FF) is the microenvironment where a growing oocyte develops. Intrafollicular communication ensures oocyte competence and is carried out through paracrine signaling, the exchange of molecules via gap junctions, and the trafficking of extracellular vesicles (EVs). The study of FF-derived EVs is important for both translational and fundamental research in the female reproductive field. This study...
Ghrelin delays premature aging in Hutchinson-Gilford progeria syndrome
Ferreira-Marques, Marisa; Carvalho, André; Franco, Ana Catarina; Leal, Ana; Botelho, Mariana; Carmo-Silva, Sara; Águas, Rodolfo; Cortes, LuísaHutchinson-Gilford progeria syndrome (HGPS) is a rare and fatal genetic condition that arises from a single nucleotide alteration in the LMNA gene, leading to the production of a defective lamin A protein known as progerin. The accumulation of progerin accelerates the onset of a dramatic premature aging phenotype in children with HGPS, characterized by low body weight, lipodystrophy, metabolic dysfunction, skin...
The frequency of non-motor symptoms in SCA3 and their association with disease ...
Hengel, Holger; Martus, Peter; Faber, Jennifer; Giunit, Paola; Garcia-Moreno, Hector; Solanky, Nita; Klockgether, Thomas; Reetz, KathrinBackground Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. In addition, lifestyle may either influence or be affected by the occurrence of NMS. Objective To characterize NMS in SCA3 and investigate possible associations with disease severity and lifestyle fac...
The stress granule protein G3BP1 alleviates spinocerebellar ataxia-associated d...
Koppenol, Rebekah; Conceição, André; Afonso, Inês T.; Afonso-Reis, Ricardo; Costa, Rafael G.; Tomé, Sandra; Teixeira, Diogo; da Silva, Joana PintoPolyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise unrelated, genes. While the protein products of these genes are suggested to play diverse cellular roles, the pathogenic mutant proteins bearing an expanded polyglutamine sequence share a tendency to self-assemble, aggregate and engage in abnormal mol...
In Vitro Evaluation of Biphasic Calcium Phosphate Scaffolds Derived from Cuttle...
Pereira, Patrícia; Neto, Ana S.; Rodrigues, Ana Sofia; Barros, Inês; Miranda, Catarina O.; Santos, João Ramalho; Almeida, Luís Pereira deThis study investigates the osteogenic differentiation of umbilical-cord-derived human mesenchymal stromal cells (hUC-MSCs) on biphasic calcium phosphate (BCP) scaffolds derived from cuttlefish bone doped with metal ions and coated with polymers. First, the in vitro cytocompatibility of the undoped and ion-doped (Sr2+, Mg2+ and/or Zn2+) BCP scaffolds was evaluated for 72 h using Live/Dead staining and viability...
A standardised protocol for blood and cerebrospinal fluid collection and proces...
Santana, Magda M.; Gaspar, Laetitia S.; Pinto, Maria M.; Silva, Patrick Joel da; Adão, Diana; Pereira, Dina; Ribeiro, Joana Afonso; Cunha, InêsThe European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative (ESMI) is a consortium established with the ambition to set up the largest European longitudinal trial-ready cohort of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease (SCA3/MJD), the most common autosomal dominantly inherited ataxia worldwide. A major focus of ESMI has been the identification of SCA3/MJD biomarkers to enable futur...
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...
Martins, Mariana; Oliveira, Ana Rafaela; Martins, Solange; Vieira, José Pedro; Perdigão, Pedro; Fernandes, Ana Rita; Almeida, Luís Pereira deDisruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease
Miranda, Catarina Oliveira; Nobre, Rui Jorge; Paiva, Vítor Hugo; Duarte, João Valente; Castelhano, João; Petrella, Lorena Itati; Sereno, JoséMachado-Joseph disease (MJD) or Spinocerebellar ataxia type 3 (SCA3) is the most common form of dominant SCA worldwide. Magnetic Resonance Imaging (MRI) and Proton Magnetic Resonance Spectroscopy (1H-MRS) provide promising non-invasive diagnostic and follow-up tools, also serving to evaluate therapies efficacy. However, pre-clinical studies showing relationship between MRI-MRS based biomarkers and functional pe...