Browsing Center for Genomic Regulation (CRG) by Author "Padilla, Natàlia"

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New genes involved in Angelman syndrome-like: expanding the genetic spectrum

Aguilera, Cinthia; Gabau, Elisabeth; Ramirez-Mallafré, Ariadna; Brun i Gasca, Carme; Dominguez-Carral, Jana; Delgadillo, Veronica; Laurie, Steven, 1973-; Derdak, Sophia; Padilla, Natàlia; Cruz, Xavier de la; Capdevila, Núria; Spataro, Nino, 1984-; Baena, Neus; Guitart, Miriam; Ruiz, Anna (Public Library of Science (PLoS), 2021)

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG ...
PHF2-mediated H3K9me balance orchestrates heterochromatin stability and neural progenitor proliferation

Aguirre, Samuel; Pappa, Stella; Serna Pujol, Núria; Padilla, Natàlia; Iacobucci, Simona; Nacht, A. Silvina; Vicent, Guillermo Pablo; Jordan Vallès, Albert; Cruz, Xavier de la; Martínez Balbás, Marian A. (EMBO Press, 2024)

Heterochromatin stability is crucial for progenitor proliferation during early neurogenesis. It relays on the maintenance of local hubs of H3K9me. However, understanding the formation of efficient localized levels of H3K9me ...

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