P Maciel

Summary

Affiliation: University of Minho
Country: Portugal

Publications

  1. pmc Absence of ataxin-3 leads to enhanced stress response in C. elegans
    Ana João Rodrigues
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    PLoS ONE 6:e18512. 2011
  2. pmc Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels
    Maria do Carmo Costa
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    PLoS ONE 5:e11728. 2010
  3. pmc The C677T polymorphism in MTHFR is not associated with migraine in Portugal
    Anabela Ferro
    UnIGENe IBMC, Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
    Dis Markers 25:107-13. 2008
  4. pmc Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation
    Monica Santos
    Life and Health Sciences Research Institute ICVS, School of Health Sciences School, University of Minho, Braga, Portugal
    Dis Markers 24:319-24. 2008
  5. pmc Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
    Jiadi Wen
    Child and Family Research Institute, Department of Pathology, University of British Columbia, Vancouver, BC, Canada
    Orphanet J Rare Dis 8:100. 2013
  6. pmc Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
    P Maciel
    Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    Neurology 65:603-5. 2005
  7. ncbi request reprint T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population
    A Carvalho
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    Mult Scler 14:550-2. 2008
  8. ncbi request reprint Improvement in the molecular diagnosis of Machado-Joseph disease
    P Maciel
    UnIGENe, IBMC, Universidade do Porto, 4150-180 Porto, Portugal
    Arch Neurol 58:1821-7. 2001
  9. ncbi request reprint Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population
    A Carvalho
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    Mol Cell Probes 21:316-20. 2007
  10. ncbi request reprint Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations
    T Temudo
    Unidade de Neuropediatria, Servico de Pediatria, Hospital de Santo Antonio, SA, Largo Abel Salazar, Porto, Portugal
    Neurology 68:1183-7. 2007

Collaborators

Detail Information

Publications19

  1. pmc Absence of ataxin-3 leads to enhanced stress response in C. elegans
    Ana João Rodrigues
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    PLoS ONE 6:e18512. 2011
    ..This report suggests that the absence of ATX-3 activates the DAF-16 pathway leading to an overexpression of molecular chaperones, which yields knockout animals with an improved capacity for dealing with deleterious stimuli...
  2. pmc Ataxin-3 plays a role in mouse myogenic differentiation through regulation of integrin subunit levels
    Maria do Carmo Costa
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    PLoS ONE 5:e11728. 2010
    ..Given the potential role of the deubiquitinating enzyme (DUB) ataxin-3 in the UPS, and the high expression of the murine ataxin-3 homolog in muscle during embryogenesis, we sought to define its role in muscle differentiation...
  3. pmc The C677T polymorphism in MTHFR is not associated with migraine in Portugal
    Anabela Ferro
    UnIGENe IBMC, Instituto de Biologia Molecular e Celular, Universidade do Porto, Porto, Portugal
    Dis Markers 25:107-13. 2008
    ..Thus, we conclude that the C677T MTHFR polymorphism, responsible for a reduction of the MTHFR activity in folate metabolism, is not a major genetic susceptibility factor for migraine in the Portuguese population...
  4. pmc Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation
    Monica Santos
    Life and Health Sciences Research Institute ICVS, School of Health Sciences School, University of Minho, Braga, Portugal
    Dis Markers 24:319-24. 2008
    ..Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation...
  5. pmc Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
    Jiadi Wen
    Child and Family Research Institute, Department of Pathology, University of British Columbia, Vancouver, BC, Canada
    Orphanet J Rare Dis 8:100. 2013
    ..However, at the cellular level, the functional consequences of recurrent genomic abnormalities and how they can be linked to the phenotype are much less investigated...
  6. pmc Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement
    P Maciel
    Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    Neurology 65:603-5. 2005
    ..This mutation was also present in his asymptomatic mother and younger brother, who had abnormally low levels of ferritin in the serum. The patient and his mother displayed bilateral involvement of the pallidum...
  7. ncbi request reprint T-1237C polymorphism of TLR9 gene is not associated with multiple sclerosis in the Portuguese population
    A Carvalho
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    Mult Scler 14:550-2. 2008
    ..Our results show no significant association with MS and no protective effect of T-1237C concerning age of onset, disease severity or disease subtype in MS patients...
  8. ncbi request reprint Improvement in the molecular diagnosis of Machado-Joseph disease
    P Maciel
    UnIGENe, IBMC, Universidade do Porto, 4150-180 Porto, Portugal
    Arch Neurol 58:1821-7. 2001
    ..These strategies, developed to overcome the practical difficulties mostly in the presymptomatic and prenatal diagnosis of MJD, should prove useful for other polyglutamine-related disorders...
  9. ncbi request reprint Study of disease-relevant polymorphisms in the TLR4 and TLR9 genes: a novel method applied to the analysis of the Portuguese population
    A Carvalho
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    Mol Cell Probes 21:316-20. 2007
    ....
  10. ncbi request reprint Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations
    T Temudo
    Unidade de Neuropediatria, Servico de Pediatria, Hospital de Santo Antonio, SA, Largo Abel Salazar, Porto, Portugal
    Neurology 68:1183-7. 2007
    ..However, related pathologies may show the same type of involuntary movement. Furthermore, patients with RTT also have stereotypies with other localizations that are less well characterized...
  11. doi request reprint Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome
    M Santos
    Life and Health Sciences Research Institute ICVS, School of Health Sciences, University of Minho, Braga, Portugal
    Neuroscience 170:453-67. 2010
    ..Moreover, we highlight the contribution of cortical regions along with the brainstem to be in the origin of the pathology and the role of hippocampus and cerebellum in the progression of the disease rather than in its establishment...
  12. ncbi request reprint Chromatin remodeling and neuronal function: exciting links
    M Santos
    Life and Health Sciences Research Institute, Health Sciences School, University of Minho, Braga, Portugal
    Genes Brain Behav 5:80-91. 2006
    ..We will discuss several human disorders that are due to altered epigenetic mechanisms, with special focus on Rett syndrome...
  13. doi request reprint [Nutrition and gastrointestinal disorders in Rett syndrome: Importance of early intervention]
    C Prior
    Hospital de Santo Antonio, Porto, Portugal
    An Pediatr (Barc) 72:191-8. 2010
    ..The aim of the present study was to characterize the nutritional and gastrointestinal status of a group of children with Rett syndrome and to evaluate the benefits of clinical intervention...
  14. ncbi request reprint A whole genome screen for association with multiple sclerosis in Portuguese patients
    M Santos
    UnIGENe IBMC, University of Porto, Portugal
    J Neuroimmunol 143:112-5. 2003
    ..Interpretable data was obtained from 4661 of these markers. Refining analysis of the most promising markers identified 10 showing potential evidence for association...
  15. ncbi request reprint [Rett's syndrome. Clinical features and advances in genetics]
    T Temudo
    Servicio de Pediatria, Hospital Geral de Santo Antonio, Porto, Portugal
    Rev Neurol 34:S54-8. 2002
    ....
  16. pmc The rs5743836 polymorphism in TLR9 confers a population-based increased risk of non-Hodgkin lymphoma
    A Carvalho
    Life and Health Sciences Research Institute, School of Health Sciences, University of Minho, Braga, Portugal
    Genes Immun 13:197-201. 2012
    ..Moreover, the increased transcriptional activity of TLR9 in mononuclear cells from patients harboring rs5743836 further supports a functional effect of this polymorphism on NHL susceptibility in a population-dependent manner...
  17. ncbi request reprint Neurodevelopment milestone abnormalities in rats exposed to stress in early life
    A R Mesquita
    Life and Health Sciences Research Institute ICVS, Health Sciences School, University of Minho, Campus de Gualtar, 4710 057 Braga, Portugal
    Neuroscience 147:1022-33. 2007
    ..In conclusion, the present results show that postnatal stress induces signs of neurological pathology that may contribute to the genesis of behavioral abnormalities later in life...
  18. ncbi request reprint APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
    R M Burwick
    Division of Epidemiology, University of California, School of Public Health, Berkeley, CA 94720, USA
    Neurology 66:1373-83. 2006
    ..The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism...
  19. ncbi request reprint Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles
    P Maciel
    City of Hope National Medical Center Beckman Research Institute, Duarte, CA, USA
    Biotechniques 34:460-2. 2003