10 documents found, page 1 of 1
In vitro and in vivo effects of SerpinA1 on the modulation of transthyretin pro...
Bezerra, F; Niemietz, C; Schmidt, HHJ; Zibert, A; Guo, S; Monia, BP; Gonçalves, P; Saraiva, MJM; Almeida, MRTransthyretin (TTR) proteolysis has been recognized as a complementary mechanism contributing to transthyretin-related amyloidosis (ATTR amyloidosis). Accordingly, amyloid deposits can be composed mainly of full-length TTR or contain a mixture of both cleaved and full-length TTR, particularly in the heart. The fragmentation pattern at Lys48 suggests the involvement of a serine protease, such as plasmin. The mos...
Modulation of the Mechanisms Driving Transthyretin Amyloidosis
Bezerra, F; Saraiva, MJM; Almeida, MRTransthyretin (TTR) amyloidoses are systemic diseases associated with TTR aggregation and extracellular deposition in tissues as amyloid. The most frequent and severe forms of the disease are hereditary and associated with amino acid substitutions in the protein due to single point mutations in the TTR gene (ATTRv amyloidosis). However, the wild type TTR (TTR wt) has an intrinsic amyloidogenic potential that, i...
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control...
Tábuas-Pereira, M; Almendra, L; Almeida, MR; Durães, J; Pinho, AR; Matos, A; Negrão, L; Geraldo, A; Santana, IINTRODUCTION: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma. METHODS: We selected patients with a diagnosis i...
Uncovering the neuroprotective mechanisms of curcumin on transthyretin amyloidosis
Ferreira, N; Saraiva, MJM; Almeida, MRTransthyretin (TTR) amyloidoses (ATTR amyloidosis) are diseases associated with transthyretin (TTR) misfolding, aggregation and extracellular deposition in tissues as amyloid. Clinical manifestations of the disease are variable and include mainly polyneuropathy and/or cardiomyopathy. The reasons why TTR forms aggregates and amyloid are related with amino acid substitutions in the protein due to mutations, or wi...
Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sne...
Santo, GC; Baldeiras, I; Guerreiro, R; Ribeiro, JA; Cunha, R; Youngstein, T; Nanthapisal, S; Leitão, J; Fernandes, C; Caramelo, F; Almeida, MR; Brás, JBACKGROUND: The association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (...
Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel ...
Ramos de Matos, M; Ferreira, C; Herukka, SK; Soininen, H; Janeiro, A; Santana, I; Baldeiras, I; Almeida, MR; Lleó, A; Dols-Icardo, O; Alcolea, DCerebrospinal fluid (CSF) biomarkers have been extensively investigated in the Alzheimer's disease (AD) field, and are now being applied in clinical practice. CSF amyloid-beta (Aβ1-42), total tau (t-tau), and phosphorylated tau (p-tau) reflect disease pathology, and may be used as quantitative traits for genetic analyses, fostering the identification of new genetic factors and the proposal of novel biological p...
Adenosine Deaminase Two and Immunoglobulin M Accurately Differentiate Adult Sne...
Santo, GC; Baldeiras, I; Guerreiro, R; Ribeiro, JA; Cunha, R; Youngstein, T; Nanthapisal, S; Leitão, J; Fernandes, C; Caramelo, F; Almeida, MR; Brás, JThe association that exists between livedo reticularis (LR) and stroke is known as Sneddon's syndrome (SnS). The disorder is classified as primary SnS (PSnS), if the cause remains unknown and secondary SnS. The condition is rare and it occurs mainly sporadically. In 2014, 2 independent teams described a new genetic disorder with childhood-onset, which was called deficiency of adenosine deaminase 2 (DADA2), char...
Molecular identification of Rickettsia felis in ticks and fleas from an endemic...
Oliveira, KA; Oliveira, LS; Dias, CCA; Silva Jr, A; Almeida, MR; Almada, G; Bouyer, DH; Galvão, MAM; Mafra, CLRickettsioses are arthropod-borne diseases caused by parasites from the Order Rickettsiales. The most prevalent rickettsial disease in Brazil is Brazilian Spotted Fever (BSF). This work intends the molecular detection of those agents in ectoparasites from an endemic area of BSF in the state of Espírito Santo. A total of 502 ectoparasites, among them Amblyomma cajennense, Amblyomma dubitatum (A. cooperi), Riphic...
CSF Tau proteins reduce misdiagnosis of sporadic Creutzfeldt-Jakob disease susp...
Leitão, MJ; Baldeiras, I; Almeida, MR; Ribeiro, MH; Santos, AC; Ribeiro, M; Tomás, J; Rocha, S; Santana, I; Oliveira, CRCerebrospinal fluid (CSF) 14-3-3 protein supports sporadic Creutzfeldt-Jakob (sCJD) diagnosis, but often leads to weak-positive results and lacks standardization. In this study, we explored the added diagnostic value of Total Tau (t-Tau) and phosphorylated Tau (p-Tau) in sCJD diagnosis, particularly in the cases with inconclusive 14-3-3 result. 95 definite sCJD and 287 patients without prion disease (non-CJD) w...
MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's...
Guedes, JR; Santana, I; Cunha, C; Duro, D; Almeida, MR; Cardoso, AM; Pedroso de Lima, MC; Cardoso, ALINTRODUCTION: Mononuclear phagocytes play a critical role during Alzheimer's disease (AD) pathogenesis due to their contribution to innate immune responses and amyloid beta (Aβ) clearance mechanisms. METHODS: Blood-derived monocytes (BDMs) and monocyte-derived macrophages (MDMs) were isolated from blood of AD, mild cognitive impairment (MCI) patients, and age-matched healthy controls for molecular and phenotypi...