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Percorrer por autor "Arez, Maria"

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  • Generation of two pairs of induced pluripotent stem cells from Angelman syndrome patients with class I 15q11.2-q13.1 deletions and their unaffected familial controls
    Publication . Santos, João Camões dos; Mateus, Francisca Cazaux; Arez, Maria; Bekman, Evguenia P.; Rocha, Simão T. da
    Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe developmental delay, speech impairment, ataxia and happy demeanor. AS is caused by loss-of-function of maternal UBE3A in neurons due to (epi)genetic abnormalities. Here, we report two new induced pluripotent stem cell (iPSC) lines from male and female patients carrying ∼ 6 Mb deletions in chr15q11.2-q13.1, together with familial control iPSC lines. All lines express pluripotent stem cell markers, demonstrate trilineage differentiation, and maintain genetic and epigenetic integrity at the locus of interest. These iPSCs provide a platform to model class I deletions, the most severe AS cause, and accelerate therapy development.
    2025-08Contributo em revista Acesso aberto Ver mais
  • A stem cell-based toolkit to model Angelman syndrome caused by paternal uniparental disomy of chromosome 15
    Publication . Mateus, Francisca Cazaux; Santos, João Camões dos; Arez, Maria; Bekman, Evguenia P.; Rocha, Simão T. da
    Angelman syndrome is a rare neurodevelopmental disorder caused by the loss of function of the maternally inherited UBE3A gene within the chr15q11-q13 region. This gene is subjected to a tissue-specific form of genomic imprinting leading to the silencing of the paternal allele in neurons. Angelman syndrome can result from various (epi)genetic mechanisms, with paternal uniparental disomy of chromosome 15 (patUPD15) being one of the rarest and least studied due to the absence of suitable models. To address this gap, we generated three independent induced pluripotent stem cell (iPSC) lines from individuals with Angelman syndrome caused by patUPD15, alongside genetically matched unaffected familial controls. Peripheral blood mononuclear cells (PBMCs) were reprogrammed into iPSCs using a non-integrative Sendai virus-based approach expressing the Yamanaka factors. All iPSC lines underwent rigorous quality control, confirming stem cell identity, trilineage differentiation potential, and genetic and epigenetic integrity. This newly established iPSC toolkit provides a powerful platform to investigate the molecular underpinnings of Angelman syndrome caused by patUPD15, paving the way for future translational research and therapeutic development tailored for this understudied form of the disorder.
    2025-09Contributo em revista Acesso aberto Ver mais