Publications by authors named "Leslie Amaral"

Background: Parkinson's disease (PD) is a complex multifactorial disorder with a genetic component in about 15% of cases. Multiplications and point mutations in SNCA gene, encoding α-synuclein (aSyn), are linked to rare familial forms of PD.

Objective: Our goal was to assess the clinical presentation and the biological effects of a novel K58N aSyn mutation identified in a patient with PD.

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Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder worldwide, and no effective cure is currently available. Neuropathologically, PD is characterized by the selective degeneration of dopaminergic neurons in the substantia nigra and by the accumulation of alpha-synuclein (aSyn)-rich proteinaceous inclusions within surviving neurons. As a multifactorial disorder, approximately 85 % of PD cases are sporadic with unknown etiology.

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Mutations and multiplications in the SNCA , encoding alpha-synuclein (aSyn), are associated with familial forms of Parkinson's disease (PD). We report the identification of a novel missense mutation (NM_000345.4, cDNA 174G>C; protein K58N) in a PD patient using whole exome sequencing, and describe comprehensive molecular and cellular analysss of the effects of this novel mutation.

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Article Synopsis
  • Parkinson's disease (PD) affects a small percentage of patients with a monogenic form linked to mutations in the alpha-synuclein (aSyn) gene, specifically missense variants that can cause familial PD.
  • A case study highlighted a patient with a novel heterozygous aSyn mutation (G14R) showing complex neurodegenerative symptoms and neuropathological findings typical of frontotemporal lobar degeneration.
  • Research on the G14R mutation indicated structural changes in aSyn, leading to increased inclusion formation and altered fibrillar morphologies, suggesting mechanisms for the observed disease characteristics.
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Parkinson's disease (PD) is a neurodegenerative disorder characterized by the loss of dopaminergic neurons and the presence of Lewy bodies, which predominantly consist of aggregated forms of the protein alpha-synuclein (aSyn). While these aggregates are a pathological hallmark of PD, the etiology of most cases remains elusive. Although environmental risk factors have been identified, such as the pesticides dieldrin and MTPT, many others remain to be assessed and their molecular impacts are underexplored.

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Due to increasing demand for high and stable crop production, human populations are highly dependent on pesticide use for growing and storing food. Environmental monitoring of these agrochemicals is therefore of utmost importance, because of their collateral effects on ecosystem and human health. Even though most current-use analytical methods achieve low detection limits, they require procedures that are too complex and costly for routine monitoring.

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Bovine lactoferrin (bLf) is a milk-derived protein that exhibits potent broad-spectrum antifungal activity against multiple fungi. bLf is susceptible to degradation, while some of its properties depend on the tertiary structure. So, the encapsulation of bLf in stimuli-responsive therapeutic formulations provides an added value to enhance its biological activities.

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Cisplatin is a widely used antineoplastic agent that has DNA as the main target, though cellular resistance hampers its therapeutic efficacy. An emerging hallmark of cancer cells is their altered metabolism, characterized by increased glycolysis even under aerobic conditions, with increased lactate production (known as the Warburg effect). Although this altered metabolism often results in increased resistance to chemotherapy, it also provides an opportunity for targeted therapeutic intervention.

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Tea is the second most commonly consumed beverage in the world. It is well recognized that the consumption of tea in high quantities can promote the development of fluorosis. The main objective of this study is to estimate the exposure to fluoride in the Azores through drinking tea prepared with water from different volcanic locations, by i) investigating the fluoride (F) content of various commercial brands of tea (Camellia sinensis) marketed in Azores and ii) comparing tea releasing rates of F according to brewing time, considering the fluoride concentration in the different types of water used for the infusion.

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The natural enrichment of water with fluoride is related to natural sources such as volcanic activity, with it being documented that fluorosis, an endemic and widespread disease in volcanic areas, is associated to the ingestion of high levels of fluoride through water. Thus, in this study, we aimed to define the fluoride concentration in drinking waters of volcanic origin and compare the sensitivity of urine and nail clippings as biomarkers for fluoride exposure in adults and children. Samples of drinking water from four villages in São Miguel Island (Azores) were used and the fluoride concentration was determined, as well the fluoride content in urine and toenails clippings from 66 children and 63 adults from these villages.

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