A5078747573- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
- DNA Repair Mechanisms
- Epigenetics and DNA Methylation
- Frailty in Older Adults
- Autism Spectrum Disorder Research
- Neuroscience and Neuropharmacology Research
- Maternal Mental Health During Pregnancy and Postpartum
- Nutrition and Health in Aging
- Tryptophan and brain disorders
- Treatment of Major Depression
- COVID-19 and Mental Health
- Autophagy in Disease and Therapy
- Stress Responses and Cortisol
- Cleft Lip and Palate Research
- Lysosomal Storage Disorders Research
- Physical Activity and Health
- Neurogenesis and neuroplasticity mechanisms
- Nuclear Structure and Function
- dental development and anomalies
- Heat shock proteins research
- Emotional Intelligence and Performance
- GDF15 and Related Biomarkers
University of Minho
2006-2024
Université de Lille
2023
DNA strand-breaks (SBs) with non-ligatable ends are generated by ionizing radiation, oxidative stress, various chemotherapeutic agents, and also as base excision repair (BER) intermediates. Several neurological diseases have already been identified being due to a deficiency in end-processing activities. Two common dirty ends, 3’-P 5’-OH, processed mammalian polynucleotide kinase 3’-phosphatase (PNKP), bifunctional enzyme 5’-kinase We made the unexpected observation that PNKP stably...
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an untreatable autosomal dominant neurodegenerative disease, and the most common such inherited worldwide. The mutation in SCA3 expansion of a polymorphic CAG tri-nucleotide repeat sequence C-terminal coding region ATXN3 gene at chromosomal locus 14q32.1. mutant protein encoding expanded glutamine (polyQ) sequences interacts with multiple proteins vivo, deposited aggregates brain. A large body literature...
Polyglutamine diseases are a class of dominantly inherited neurodegenerative disorders for which there is no effective treatment. Here we provide evidence that activation serotonergic signalling beneficial in animal models Machado-Joseph disease. We identified citalopram, selective serotonin reuptake inhibitor, small molecule screen FDA-approved drugs rescued neuronal dysfunction and reduced aggregation using Caenorhabditis elegans model mutant ataxin 3-induced neurotoxicity. MOD-5, the C....
Rett syndrome (RTT) is a neurodevelopmental disorder that affects mainly females, associated in most cases to mutations the MECP2 gene. After an apparently normal prenatal and perinatal period, patients display arrest growth psychomotor development, with autistic behaviour, hand stereotypies mental retardation. Despite this classical description, researchers always questioned whether RTT did have subtle manifestations soon after birth. This issue was recently brought light by several studies...
<b><i>Background:</i></b> Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia caused by a CAG tract expansions in the <i>ATXN3</i> gene. Patterns of mitochondrial damage associated with pathological findings brain tissues could provide molecular biomarkers this disorder. <b><i>Objective:</i></b> The potential DNA (mtDNA) as biomarker MJD progression was investigated using transgenic mouse model....
ABSTRACT Background and Objective : Mitochondrial dysfunction has been implicated in several neurodegenerative diseases. Creatine administration increases concentration of the energy buffer phosphocreatine, exerting protective effects brain. We evaluate whether a creatine‐enriched diet would be beneficial for mouse model spinocerebellar ataxia type 3, genetically defined disease which no treatment is available. Methods performed 2 independent preclinical trials using CMVMJD135 (treating...
The physiological function of Ataxin-3 (ATXN3), a deubiquitylase (DUB) involved in Machado–Joseph Disease (MJD), remains elusive. In this study, we demonstrate that ATXN3 is required for neuronal differentiation and normal cell morphology, cytoskeletal organization, proliferation survival SH-SY5Y PC12 cells. This cellular phenotype associated with increased proteasomal degradation α5 integrin subunit (ITGA5) reduced activation signalling rescued by ITGA5 overexpression. Interestingly,...
The observation that certain patterns of tooth agenesis occur more frequently in individuals the same family may suggest existence predisposing genetic factors. aim this study was to search for mutations PAX9 and MSX1 genes investigate their potential association with maxillary lateral incisor (MLIA) phenotype 12 Portuguese families, a total 52 individuals, probands 40 relatives (eight which had MLIA). Twenty-three subjects were male 29 female an age range 10-75 years. control group...
Machado-Joseph disease (MJD) is an inherited neurodegenerative disease, caused by a CAG repeat expansion within the coding region of ATXN3 gene, and which currently lacks effective treatment. In this work we tested therapeutic efficacy chronic treatment with valproic acid (VPA) (200mg/kg), compound known neuroprotection activity, previously shown to be in cell, fly nematode models MJD. We show that VPA CMVMJD135 mouse model had limited effects motor deficits these mice, seen mostly at late...
Abstract Purpose Independence in activities of daily living (ADLs) is associated with quality life (QoL) individuals dementia. However, the contribution physical and cognitive functions to this relationship needs further examination. This study aims examine mediating effect fitness function between independence basic ADLs QoL among older adults Methods cross-sectional included 107 dementia (74.8% women; age 78.21 ± 7.70 years). ADL were evaluated using Barthel Index (BI) QoL- Alzheimer’s...
Objective: The present study aims to explore the mediation role of self-regulation on health-related behaviors adoption or maintenance, mental health, and well-being during COVID-19 confinement in a sample adults Portugal. Design: One-hundred fifty individuals (118 females, 32 males; M age = 33.57 year; SD 12.71) filled an online survey assess self-regulation, healthy behaviors, perception, early months pandemic (June–August, 2020). Main Outcome Measures: Self-regulation capacity,...
Abstract Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene. We investigated genetic basis of disease female patient with Rett‐like clinical. Karyotype analysis revealed pericentric inversion X chromosome −46,X,inv(X)(p22.1q28), breakpoints cytobands where and CDKL5 genes are located. FISH that gene not dislocated inversion. However, spite balanced pattern inactivation, this displayed hypomethylation an overexpression at mRNA level lymphocytes (mean fold...
Advanced aging is associated with cognitive decline. To decrease the healthcare system and socio-economic burdens as well to promote better quality of life, important uncover factors that may be related delay impairments in older adults. This study investigated relationship between physical activity levels, sedentary behavior cardiorespiratory fitness functioning healthy Furthermore, it examined mediating role processing speed on association executive functions long-term memory. Thirty-two...
Abstract Although frailty is an important, well-characterized concept in the provision of medical care to older adults, it has not been linked vulnerability developed humanities and social sciences. Here, we distinguish between two main dimensions vulnerability: a fundamental, anthropological dimension which people are exposed risk injury, relational depend on each other their environment. The notion might provide healthcare professionals with better understanding (and its potential...