An RNF12-USP26 amplification loop drives germ cell specification and is disrupted by disease-associated mutations

por Segarra-Fas, Anna, Espejo-Serrano, Carmen, Bustos, Francisco, Zhou, Houjiang, Wang, Feng, Toth, Rachel, Macartney, Thomas, Bach, Ingolf, Nardocci, Gino, Findlay, Greg M.
Publicado 2022

RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation

por Bustos, Francisco, Segarra-Fas, Anna, Chaugule, Viduth K., Brandenburg, Lennart, Branigan, Emma, Toth, Rachel, Macartney, Thomas, Knebel, Axel, Hay, Ronald T., Walden, Helen, Findlay, Greg M.
Publicado 2018

A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome

por Bustos, Francisco, Espejo-Serrano, Carmen, Segarra-Fas, Anna, Toth, Rachel, Eaton, Alison J., Kernohan, Kristin D., Wilson, Meredith J., Riley, Lisa G., Findlay, Greg M.
Publicado 2021

Functional Diversification of SRSF Protein Kinase to Control Ubiquitin-Dependent Neurodevelopmental Signaling

por Bustos, Francisco, Segarra-Fas, Anna, Nardocci, Gino, Cassidy, Andrew, Antico, Odetta, Davidson, Lindsay, Brandenburg, Lennart, Macartney, Thomas J., Toth, Rachel, Hastie, C. James, Moran, Jennifer, Gourlay, Robert, Varghese, Joby, Soares, Renata F., Montecino, Martin, Findlay, Greg M.
Publicado 2020