40 documents found, page 1 of 4
Mycoplasma pneumoniae-Induced Rash and Mucositis: A Management Dilemma
S. Abreu, Margarida; Carvalho, Ana Luísa; Morais, André; Carvalho, Susana; Cerqueira, ArnaldoMycoplasma pneumoniae induced rash and mucositis is a recently acknowledged clinical entity; therefore, the effectiveness and utility of therapeutic options are still under investigation. This case report aims to highlight the clinical characteristics of this disease and share a report on its management. Herein is reported a previously healthy 15-year-old male admitted with a high fever, severe oral and ocular ...
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfact...
Geada, Sara; Teixeira-Marques, Francisco; Teixeira, Bruno; Carvalho, Ana Luísa; Lousan, Nuno; Saraiva, Jorge; Murta, Joaquim; Silva, RufinoCNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients...
Genomic Landscape and Natural History of Sector Retinitis Pigmentosa
Cortinhal, Telmo; Geada, Sara; Neves, Emmanuel; Carvalho, Ana Luísa; Saraiva, Jorge; Silva, Rufino; Murta, Joaquim; Marques, João PedroIntroduction: Sector retinitis pigmentosa (sRP) is a rare, atypical, and milder variant of rod-cone degeneration. Despite historically associated with RHO gene, the mutational spectrum of sRP is evolving with multiple causative genes recently implicated. This study aimed to characterize the genotypes, phenotypes, and natural history of a Portuguese cohort of sRP. Methods: Retrospective, observational study, c...
Molecular and Multimodal Retinal Imaging Findings in a Multicentric Portuguese ...
Geada, Sara; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Correia, Marta; Sousa, Keissy; Soares, Mário; Carvalho, Ana Luísa; Saraiva, JorgeIntroduction Our purpose was to describe the molecular and multimodal retinal imaging findings in a cohort of Portuguese patients with a clinical diagnosis of Stargardt Disease (STGD1). Methods Multicenter, cross sectional cohort study of consecutive patients with a clinical diagnosis of STGD1, referred from six Portuguese centers. All patients underwent a complete ophthalmological examination complemented by...
Ligand-independent activity of the ghrelin receptor modulates AMPA receptor tra...
Ribeiro, Luís F.; Catarino, Tatiana; Carvalho, Mário; Cortes, Luísa; Santos, Sandra D.; Opazo, Patricio O.; Ribeiro, Lyn Rosenbrier; Oliveiros, BárbaraThe biological signals of hunger, satiety, and memory are interconnected. The role of the hormone ghrelin in regulating feeding and memory makes ghrelin receptors attractive targets for associated disorders. We investigated the effects of the high ligand-independent activity of the ghrelin receptor GHS-R1a on the physiology of excitatory synapses in the hippocampus. Blocking this activity produced a decrease in...
It takes two to tango: Concerted protein translation and degradation necessary ...
Carvalho, Ana Luísa; Fernandes, DominiqueSynaptic scaling allows neurons to adjust synaptic strength in response to chronic alterations in neuronal activity. A new study in PLOS Biology identifies a pathway that synergizes protein synthesis and degradation with remodeling of the microRNA (miRNA)-induced silencing complex (miRISC) to mediate synaptic scaling.
The SOUL family of heme-binding proteins: structure and function 15 years later
Goodfellow, Brian J.; Freire, Filipe; Carvalho, Ana Luísa; Aveiro, Susana S.; Charbonnier, Peggy; Moulis, Jean-Marc; Delgado, LeonildoThe SOUL, or heme-binding protein HBP/SOUL, family represents a group of evolutionary conserved putative heme-binding proteins that contains a number of members in animal, plant and bacterial species. The structures of the murine form of HEBP1, or p22HBP, and the human form of HEBP2, or SOUL, have been determined in 2006 and 2011 respectively. In this work we discuss the structures of HEBP1 and HEBP2 in light o...
The SOUL family of heme-binding proteins: structure and function 15 years later
Goodfellow, Brian J.; Freire, Filipe; Carvalho, Ana Luísa; Aveiro, Susana; Charbonnier, Peggy; Moulis, Jean-Marc; Delgado, Leonildo; Ferreira, Gloria C.The SOUL, or heme-binding protein HBP/SOUL, family represents a group of evolutionary conserved putative heme-binding proteins that contains a number of members in animal, plant and bacterial species. The structures of the murine form of HEBP1, or p22HBP, and the human form of HEBP2, or SOUL, have been determined in 2006 and 2011 respectively. In this work we discuss the structures of HEBP1 and HEBP2 in light o...
SLMP53-1 interacts with wild-type and mutant p53 DNA-binding domain and reactiv...
Gomes, A. S.; Ramos, Helena; Gomes, S.; Loureiro, Joana B.; Soares, Joana; Barcherini, Valentina; Monti, Paola; Fronza, GilbertoBackground Half of human cancers harbour TP53 mutations that render p53 inactive as a tumor suppressor. As such, reactivation of mutant (mut)p53 through restoration of wild-type (wt)-like function represents one of the most promising therapeutic strategies in cancer treatment. Recently, we have reported the (S)-tryptophanol-derived oxazoloisoindolinone SLMP53-1 as a new reactivator of wt and mutp53 R280K with i...
Synthesis, crystal structure, and DFT study of two new dinuclear copper(I) comp...
Outis, Mani; Rosa, Vitor; Laia, César A.T.; Lima, João Carlos; Barroso, Sonia; Carvalho, Ana Luísa; Calhorda, Maria José; Avilés, TeresaTwo new bis(aryl-imino)-acenaphthene, Ar-BIAN (Ar = 2,4,6-trimethylphenyl = mes) ligands, bearing the NO2 group in the naphthalene moiety of the iminoacenaphthene at para- (5-NO2) and meta- (4-NO2) position, of formulations 1,2-bis(mes-imino)-5-nitroacenaphthene, 1, and 1,2-bis(mes-imino)-4-nitroacenaphthene, 2, were synthesized. Their respective dinuclear iodide bridged copper(I) complexes [Cu2(μ-I)2(mes-BIAN-...